AVDB

Screening Panel

It provides a meticulously curated list of genes that are either currently part of national screening programmes or have been prioritized based on population burden and computational risk models. This list includes a justification for the inclusion of each gene, along with relevant data on population carrier frequency, first cousin risk, and a machine learning-derived risk score. These components collectively aid in the prioritization of genes for future screening expansions. This resource serves as a strategic tool for clinicians, policymakers, and researchers seeking to implement or enhance genetic screening initiatives in the Arab region.

Gene Name Disorder Allele Freq Variant Count Included Rationale Carrier Rate 1st Cousin Risk ML Risk Score
CYP21A2 Hyperandrogenism 0.838712 5 TRUE Included in national screening panel 1 1 0.935485
HBB Haemoglobin variant 0.197344 17 TRUE Included in national screening panel 0.918184 0.918184 0.629848
MEFV Neutrophilic dermatosis 0.752691 3 TRUE Included in national screening panel 0.542552 0.542552 0.626608
SGCG Muscular dystrophy, limb girdle 1 1 TRUE Included in national screening panel 0.236572 0.236572 0.541943
HBD Haemoglobin variant 0.967746 1 TRUE Included in national screening panel 0.229039 0.229039 0.524522
F2 Thrombophilia 1 due to thrombin defect 0.677421 1 TRUE Included in national screening panel 0.16094 0.16094 0.367532
ABCA4 Retinal dystrophy 0.211982 7 TRUE Included in national screening panel 0.397026 0.397026 0.323009
CUBN Albuminuria, association with 0.17742 8 TRUE Included in national screening panel 0.39329 0.39329 0.306942
HBA1 Haemoglobin variant 0.333334 3 TRUE Included in national screening panel 0.253599 0.253599 0.285493
ABCA12 Ichthyosis 0.483872 1 TRUE Included in national screening panel 0.115249 0.115249 0.262698
CD36 Platelet glycoprotein IV deficiency 0.188172 6 TRUE Included in national screening panel 0.30648 0.30648 0.259157
ITGB3 Bleeding disorder 0.451614 1 TRUE Included in national screening panel 0.107611 0.107611 0.245212
BCHE Butyrylcholinesterase deficiency 0.27957 3 TRUE Included in national screening panel 0.214307 0.214307 0.240412
DONSON Microcephaly 0.338711 2 TRUE Included in national screening panel 0.168675 0.168675 0.236689
HBA2 Haemoglobin variant 0.322582 2 TRUE Included in national screening panel 0.161698 0.161698 0.226051
CYP1B1 Glaucoma 3A 0.258065 3 TRUE Included in national screening panel 0.199576 0.199576 0.222972
PAH Hyperphenylalaninemia 0.0537636 15 TRUE Included in national screening panel 0.300884 0.300884 0.202036
GJB2 Keratoderma 0.161291 5 TRUE Included in national screening panel 0.223462 0.223462 0.198593
SORD Neuronopathy, distal hereditary motor, autosomal recessive 8 0.35484 1 TRUE Included in national screening panel 0.0846583 0.0846583 0.192731
GALNT3 Tumoral calcinosis 0.225807 2 TRUE Included in national screening panel 0.11556 0.11556 0.159659
PKLR Pyruvate kinase deficiency 0.161291 3 TRUE Included in national screening panel 0.13081 0.13081 0.143002
MPL Thrombocytosis, association with 0.258065 1 TRUE Included in national screening panel 0.0616473 0.0616473 0.140214
F7 Factor VII deficiency 0.112904 4 TRUE Included in national screening panel 0.130816 0.130816 0.123651
COQ9 Primary coenzyme Q10 deficiency, neonatal onset 0.225807 1 TRUE Included in national screening panel 0.0539641 0.0539641 0.122701
NCF1 Chronic granulomatous disease 0.225807 1 TRUE Included in national screening panel 0.0539641 0.0539641 0.122701
SLC26A4 Deafness 0.0903227 5 TRUE Included in national screening panel 0.138933 0.138933 0.119489
AVIL Nephrotic syndrome 0.193549 1 TRUE Included in national screening panel 0.0462744 0.0462744 0.105184
PIGO PIGO deficiency 0.193549 1 TRUE Included in national screening panel 0.0462744 0.0462744 0.105184
UFSP2 ?Hip dysplasia 0.193549 1 TRUE Included in national screening panel 0.0462744 0.0462744 0.105184
ALDH3A2 Sjogren-Larsson syndrome 0.0887098 4 TRUE Included in national screening panel 0.108123 0.108123 0.100357
KIF1C Cerebellar ataxia 0.129032 2 TRUE Included in national screening panel 0.0694861 0.0694861 0.0933046
HSPG2 Scoliosis, idiopathic, association with 0.0806455 4 TRUE Included in national screening panel 0.1002 0.1002 0.092378
TPO Thyroid dyshormonogenesis 2A 0.0645164 5 TRUE Included in national screening panel 0.107935 0.107935 0.0905674
C7 Alzheimer disease in Han Chinese, association with 0.161291 1 TRUE Included in national screening panel 0.0385782 0.0385782 0.0876631
AGK Sengers syndrome 0.161291 1 TRUE Included in national screening panel 0.0385782 0.0385782 0.0876631
C8A Complement C8 alpha-gamma deficiency 0.161291 1 TRUE Included in national screening panel 0.0385782 0.0385782 0.0876631
ORC6 Meier-Gorlin syndrome 0.161291 1 TRUE Included in national screening panel 0.0385782 0.0385782 0.0876631
RPGRIP1 Cone-rod dystrophy 13 0.0860216 3 TRUE Included in national screening panel 0.0772147 0.0772147 0.0807375
EYS Retinitis pigmentosa 0.0368664 7 TRUE Included in national screening panel 0.108136 0.108136 0.0796279
BTD Biotinidase deficiency 0.00992557 13 TRUE Included in national screening panel 0.123722 0.123722 0.0782036
TYR Albinism, oculocutaneous 0.0430108 6 TRUE Included in national screening panel 0.100407 0.100407 0.0774485
UPB1 Beta-ureidopropionase deficiency 0.075269 3 TRUE Included in national screening panel 0.0694731 0.0694731 0.0717915
ABCG8 Sitosterolemia 1 0.0752689 3 TRUE Included in national screening panel 0.0694342 0.0694342 0.0717681
CCDC40 Primary ciliary dyskinesia 0.0967744 2 TRUE Included in national screening panel 0.0540419 0.0540419 0.0711349
PCARE Retinitis pigmentosa 54 0.0967743 2 TRUE Included in national screening panel 0.0540094 0.0540094 0.0711154
GNE GNE myopathy 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
GP6 Absence of collagen-induced platelet activation 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
VDR Rickets 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
GLDC Glycine encephalopathy 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
GRM6 Congenital stationary night blindness 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
PSAP Combined SAP deficiency 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
PLOD1 Ehlers-Danlos syndrome 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
PTPRQ Congenital sensorineural hearing loss, autosomal recessive 0.129032 1 TRUE Included in national screening panel 0.0308755 0.0308755 0.0701383
USH2A Retinitis Pigmentosa 0.0201614 8 TRUE Included in national screening panel 0.0927886 0.0927886 0.0637377
LAMA1 Schizophrenia 0.0645162 3 TRUE Included in national screening panel 0.0618028 0.0618028 0.0628882
ABCC6 Pseudoxanthoma elasticum 0.0387097 5 TRUE Included in national screening panel 0.0772147 0.0772147 0.0618127
RAB3GAP2 Microphthalmia & cataract 0.0483872 4 TRUE Included in national screening panel 0.0695574 0.0695574 0.0610893
GNRHR Hypogonadotropic hypogonadism 0.0806453 2 TRUE Included in national screening panel 0.0463392 0.0463392 0.0600616
NR2E3 Retinitis pigmentosa 37 0.0806453 2 TRUE Included in national screening panel 0.0463392 0.0463392 0.0600616
RARS2 Pulmonary arterial hypertension 0.0806453 2 TRUE Included in national screening panel 0.0463392 0.0463392 0.0600616
COL17A1 Epithelial recurrent erosion dystrophy 0.0806453 2 TRUE Included in national screening panel 0.0463392 0.0463392 0.0600616
CCNO Ciliary dyskinesia 0.0806453 2 TRUE Included in national screening panel 0.0463132 0.0463132 0.0600461
CDK5RAP2 Autism spectrum disorder 0.0806453 2 TRUE Included in national screening panel 0.0463132 0.0463132 0.0600461
CDH23 Usher syndrome 0.0268818 6 TRUE Included in national screening panel 0.0773185 0.0773185 0.0571438
VWF von Willebrand disease 0.0403227 4 TRUE Included in national screening panel 0.0618093 0.0618093 0.0532147
PJVK Deafness 0.0967743 1 TRUE Included in national screening panel 0.0231663 0.0231663 0.0526095
ALDOB Fructose intolerance 0.0967743 1 TRUE Included in national screening panel 0.0231663 0.0231663 0.0526095
CNGB3 Achromatopsia 3 0.0967743 1 TRUE Included in national screening panel 0.0231663 0.0231663 0.0526095
GAA Glycogen storage disease II 0.0215054 6 TRUE Included in national screening panel 0.0695833 0.0695833 0.0503522
MYO5B Diarrhea 2 0.0645162 2 TRUE Included in national screening panel 0.0386365 0.0386365 0.0489884
SLC3A1 Cystinuria 0.0645162 2 TRUE Included in national screening panel 0.0386365 0.0386365 0.0489884
ZFYVE26 Spastic paraplegia with thin corpus callosum 0.0645162 2 TRUE Included in national screening panel 0.0386365 0.0386365 0.0489884
SLC12A3 Gitelman syndrome 0.0322581 4 TRUE Included in national screening panel 0.0541002 0.0541002 0.0453634
GYS2 Glycogen storage disease 0 0.0430109 3 TRUE Included in national screening panel 0.0463781 0.0463781 0.0450312
SI Sucrase isomaltase deficiency 0.0430108 3 TRUE Included in national screening panel 0.0463651 0.0463651 0.0450234
GALC Krabbe disease 0.0430108 3 TRUE Included in national screening panel 0.0463651 0.0463651 0.0450234
CFTR Cystic fibrosis 0.0193549 5 TRUE Included in national screening panel 0.0541196 0.0541196 0.0402137
SPG7 Spastic paraplegia 0.0483872 2 TRUE Included in national screening panel 0.0309144 0.0309144 0.0379035
ACADS Short-chain acyl-CoA-dehydrogenase deficiency 0.0483872 2 TRUE Included in national screening panel 0.0309144 0.0309144 0.0379035
F11 Factor XI deficiency 0.0483872 2 TRUE Included in national screening panel 0.0309014 0.0309014 0.0378957
ANO5 Muscular dystrophy, limb girdle 2L 0.0483872 2 TRUE Included in national screening panel 0.0309014 0.0309014 0.0378957
OBSL1 Cardiomyopathy, dilated 0.0241936 4 TRUE Included in national screening panel 0.0463911 0.0463911 0.0375121
TRIP4 Spinal muscular atrophy & congenital bone fractures 0.0241936 4 TRUE Included in national screening panel 0.0463911 0.0463911 0.0375121
TTC37 Fatigue, failure to thrive & diarrhoea 0.0241936 4 TRUE Included in national screening panel 0.0463911 0.0463911 0.0375121
DPYS Dihydropyrimidinase deficiency 0.0107527 6 TRUE Included in national screening panel 0.0541326 0.0541326 0.0367807
GCDH Glutaric acidaemia 1 0.0322581 3 TRUE Included in national screening panel 0.0386495 0.0386495 0.0360929
TTC21B Bardet-Biedl syndrome 0.0322581 3 TRUE Included in national screening panel 0.0386495 0.0386495 0.0360929
TPRN Hearing loss 0.0322581 3 TRUE Included in national screening panel 0.0386365 0.0386365 0.0360851
C8B Primary immunodeficiency disease 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
SAG Retinitis pigmentosa, autosomal recessive 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
APTX Ataxia 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
MTRR Cleft lip with or without cleft palate 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
PEX6 Peroxisome biogenesis disorder 4B 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
PHC1 Primary microcephaly 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
PMM2 Congenital disorder of glycosylation 1a 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
SBF1 Charcot-Marie-Tooth disease 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
SVBP Neurodevelopmental disorder with ataxia 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
CERS3 Ichthyosis 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
MOCOS Thiopurine-induced toxicity 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
PSAT1 Developmental disorder 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
CYP4V2 Retinitis pigmentosa 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
HSD11B2 Apparent mineralocorticoid excess 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
TMEM107 Oral-facial-digital syndrome 0.0645162 1 TRUE Included in national screening panel 0.0154507 0.0154507 0.0350769
DNAH5 Primary ciliary dyskinesia 0.0161291 4 TRUE Included in national screening panel 0.0386559 0.0386559 0.0296452
KCNJ1 Bartter syndrome 0.0215055 3 TRUE Included in national screening panel 0.0309274 0.0309274 0.0271586
ATP2A1 Autism spectrum disorder 0.0215055 3 TRUE Included in national screening panel 0.0309274 0.0309274 0.0271586
CA5A Carbonic anhydrase VA deficiency 0.0215054 3 TRUE Included in national screening panel 0.0309209 0.0309209 0.0271547
DPYD Dihydropyrimidine dehydrogenase deficiency 0.0215054 3 TRUE Included in national screening panel 0.0309209 0.0309209 0.0271547
IL17RA IL-17RA deficiency with bacterial and fungal infections 0.0215054 3 TRUE Included in national screening panel 0.0309209 0.0309209 0.0271547
PANK2 Neurodegeneration with brain iron accumulation 1 0.0322582 2 TRUE Included in national screening panel 0.0231923 0.0231923 0.0268187
DNASE1L3 Systemic lupus erythematosus 16 0.0322582 2 TRUE Included in national screening panel 0.0231923 0.0231923 0.0268187
FAH Tyrosinemia 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
ADA2 Sneddon syndrome 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
SBDS Shwachman-Diamond syndrome 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
B3GAT3 Multiple joint dislocations 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
CYP11B1 Steroid-11 beta-hydroxylase deficiency 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
TMEM138 Joubert syndrome 16 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
TMPRSS3 Hearing loss 0.0322581 2 TRUE Included in national screening panel 0.0231858 0.0231858 0.0268147
CNGA3 Achromatopsia 2 0.00645164 5 TRUE Included in national screening panel 0.0386689 0.0386689 0.025782
TRIOBP Developmental disorder 0.00645164 5 TRUE Included in national screening panel 0.0386689 0.0386689 0.025782
ALMS1 Alstrom syndrome 0 6 TRUE Included in national screening panel 0.0386754 0.0386754 0.0232052
LOXHD1 Deafness 0 6 TRUE Included in national screening panel 0.0386754 0.0386754 0.0232052
ATM Ataxia-telangiectasia 0.00806455 4 TRUE Included in national screening panel 0.0309338 0.0309338 0.0217861
PKHD1 Polycystic kidney disease 4 0.00806455 4 TRUE Included in national screening panel 0.0309338 0.0309338 0.0217861
CEP290 Leber congenital amaurosis 10 0.00806455 4 TRUE Included in national screening panel 0.0309338 0.0309338 0.0217861
VPS13B Cohen syndrome 0.00806455 4 TRUE Included in national screening panel 0.0309338 0.0309338 0.0217861
DYNC2H1 Asphyxiating thoracic dystrophy 0.00806455 4 TRUE Included in national screening panel 0.0309338 0.0309338 0.0217861
DUOX2 Hypothyroidism 0 5 TRUE Included in national screening panel 0.0309403 0.0309403 0.0185642
C6 Inflammatory bowel disease, very early onset 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
MVK Hyper-IgD syndrome 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
AGXT Hyperoxaluria 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
ALPL Odontohypophosphatasia 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
ATP7B Wilson disease 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
CAPN3 Muscular dystrophy, limb girdle 2A 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
OTOGL Hearing impairment 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
SPG11 Charcot-Marie-Tooth disease 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
SPTA1 Spherocytosis 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
PCDH15 Usher syndrome 1 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
CPLANE1 Joubert syndrome 0.0107527 3 TRUE Included in national screening panel 0.0231988 0.0231988 0.0182204
RAX Microphthalmia 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ACO2 Optic atrophy 9 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
AGRN Congenital myasthenic syndrome with distal muscle weakness & atrophy 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ASPM Microcephaly 5 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
LHX3 Hypopituitarism and sensorineural hearing loss 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ORC4 Lymphoproliferative disorder 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
OTOA Hearing loss 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
PEX1 Zellweger syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
PGM3 Fetal alcohol syndrome, predisposition to 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
PNPO Pyridoxamine 5'-phosphate oxidase deficiency 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
POLG Mitochondrial recessive ataxia syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
QDPR Dihydropteridine reductase deficiency 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ACAD8 Isobutyryl-CoA dehydrogenase deficiency 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
AP4S1 Spastic paraplegia 52 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
ATP9A Neurodevelopmental disorder with poor growth and behavioral abnormalities 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
CHRNG Multiple pterygium syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
CNTN2 Hypogonadotropic hypogonadism 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
CRIPT Short stature, microcephaly & dysmorphic facies 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
DGAT1 Diarrhea 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
DGUOK Portal hypertension 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
DHODH Miller syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
DNAH9 Situs inversus and male infertility 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
DOCK6 Adams-Oliver syndrome 2 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
FANCC Fanconi anemia 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
FRAS1 Congenital anomalies of the kidney and urinary tract 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
G6PC1 Glycogen storage disease Ia 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
GALK1 Galactokinase deficiency, presenile cataract 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
GDAP1 Charcot-Marie-Tooth disease 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
GIPC3 Hearing loss, non-syndromic 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
KLHL7 Retinitis pigmentosa 42 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
LAMA3 Epidermolysis bullosa, junctional 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
LOXL3 Myopia 28 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
LRRK1 Osteosclerotic metaphyseal dysplasia 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
MALT1 Immunodeficiency, combined 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
COL6A2 Bethlem myopathy 1 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
LRPPRC Infantile mitochondrial disease, lethal 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
MCIDAS Ciliary dyskinesia 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
MMACHC Methylmalonic aciduria and homocystinuria 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
PLA2G6 Infantile neuroaxonal dystrophy 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
SKIV2L Macular degeneration, age related, reduced risk 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
SLC5A7 Neuronopathy 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
CFAP410 Retinitis pigmentosa 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
COL27A1 Steel syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
EDARADD Ectodermal dysplasia 11A 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
IL12RB1 Mycobacterial infection 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
SLC6A19 Hartnup disorder 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
KIAA0586 Joubert syndrome 0.0322582 1 TRUE Included in national screening panel 0.00772861 0.00772861 0.0175404
AIRE Autoimmune polyendocrinopathy syndrome 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
CDH3 Hypotrichosis 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
FTCD Formiminoglutamic acidura 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
GAMT Cerebral creatine deficiency syndrome 2 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
LDLR LDL cholesterol level QTL2 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
OCLN Pseudo-TORCH syndrome 1 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
OTOG Hearing loss, sensorineural 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
PYGM McArdle disease 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
TGM1 Ichthyosiform erythroderma, congenital, nonbullous 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
EXPH5 Epidermolysis bullosa, junctional 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
GRHPR Hyperoxaluria II 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
IQCB1 Leber congenital amaurosis 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
NPHS1 Nephrotic syndrome 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
ROGDI Kohlschütter-Tönz syndrome 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
TRPM1 Night blindness 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
CFAP53 Dextrocardia and situs disturbances 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
CORO1A Haemophagocytic lymphohistiocytosis 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
SEC23B Anaemia, dyserythropoietic congenital, type II 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
ALDH7A1 Epilepsy 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
PLEKHG5 Myopathy 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
SLC34A1 ?Fanconi renotubular syndrome 2 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
ADAMTS18 Microcornea, myopic chorioretinal atrophy and telecanthus 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
RNASEH2A Aicardi-Goutieres syndrome 4 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
SERPINF1 Osteogenesis imperfecta 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
SLC25A13 Intrahepatic cholestasis, neonatal 0.0161291 2 TRUE Included in national screening panel 0.0154637 0.0154637 0.0157299
GBA Gaucher disease 0 4 TRUE Included in national screening panel 0.0232052 0.0232052 0.0139231
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 4 TRUE Included in national screening panel 0.0232052 0.0232052 0.0139231
TMEM67 Nephronophthisis 11 0 4 TRUE Included in national screening panel 0.0232052 0.0232052 0.0139231
TTN Muscular dystrophy 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
CLN3 Retinal dystrophy, early-onset 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
NBAS Bone, connective tissue, liver, immune system & retinal defects 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
OTOF Deafness, non-syndromic 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
PEPD Prolidase deficiency 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
RTTN Primary microcephaly & primordial dwarfism 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
STRC Deafness, non-syndromic 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
ACADVL Very long chain acyl-CoA dehydrogenase deficiency 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
COL7A1 EBD 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
DNAH11 Ciliary dyskinesia 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
TUBGCP6 Diaphragmatic hernia 0 3 TRUE Included in national screening panel 0.0154702 0.0154702 0.00928209
AGL Glycogen storage disease 3 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
CBS Homocystinuria 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
HGD Alkaptonuria 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
PTS Tetrahydrobiopterin deficiency 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
WRN Werner syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
AHI1 Joubert syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
ALG1 Congenital disorder of glycosylation 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
ARSA Metachromatic leukodystrophy 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
CTNS Cystinosis 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
CUL7 3-M syndrome 1 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
DOK7 Fetal akinesia deformation sequence 3 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
EVC2 Ellis-van Creveld syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
GBA2 Spastic paraplegia 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
HEXA [Hex A pseudodeficiency] 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
HPS3 Hermansky-Pudlak syndrome 3 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
IDUA Hurler syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
JAK3 Immunodeficiency, severe combined 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
LYST Chediak-Higashi syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
MKS1 Parkinson disease, early onset 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
PROC Thrombophilia 3 due to protein C deficiency 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
RYR1 Congenital myopathy 1B 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SACS Spastic ataxia, Charlevoix-Saguenay 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
UBR1 Johanson-Blizzard syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
LINS1 Intellectual developmental disorder 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
NPHP1 Nephronophthisis 1 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
NPHP4 Nephronophthisis 4 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
RAPSN Congenital myasthenic syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SCN4A Paramyotonia congenita 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
THOC6 Intellectual disability 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
ACADSB Inborn error of metabolism 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
ADGRV1 Deafness, non-syndromic, autosomal recessive 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
CCDC39 Primary ciliary dyskinesia 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
GPR179 Autism spectrum disorder 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
INPP5E Joubert syndrome 1 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
MYO15A Deafness, non-syndromic, autosomal recessive 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SPATA7 Leber congenital amaurosis 3 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
CYP27A1 Cerebrotendinous xanthomatosis 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
DYNC2I1 Short-rib thoracic dysplasia 8 with or without polydactyly 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SLC37A4 Glycogen storage disease 1b 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
TMEM231 Meckel syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
ADAMTS17 Weill-Marchesani syndrome 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SERPINA1 Reduced alpha-1-antitrypsin concentration 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
SLC25A20 Carnitine-acylcarnitine translocase deficiency 0 2 TRUE Included in national screening panel 0.00773508 0.00773508 0.00464105
C5 Complement C5 deficiency 0 1 TRUE Included in national screening panel 0 0 0
FH Multiple leiomyomatosis 0 1 TRUE Included in national screening panel 0 0 0
PC Hyperinsulinism 0 1 TRUE Included in national screening panel 0 0 0
ADA Adenosine deaminase deficiency 0 1 TRUE Included in national screening panel 0 0 0
ASL Argininosuccinic aciduria 0 1 TRUE Included in national screening panel 0 0 0
ATR Pulmonary fibrosis / aplastic anaemia 0 1 TRUE Included in national screening panel 0 0 0
BLM Breast cancer 0 1 TRUE Included in national screening panel 0 0 0
DSP Cardiomyopathy, arrhythmogenic right ventricular 0 1 TRUE Included in national screening panel 0 0 0
GHR Hypogonadotropic hypogonadism 0 1 TRUE Included in national screening panel 0 0 0
IVD Isovaleric acidemia 0 1 TRUE Included in national screening panel 0 0 0
IYD Hypothyroidism 0 1 TRUE Included in national screening panel 0 0 0
LPL Hyperlipidaemia 0 1 TRUE Included in national screening panel 0 0 0
NBN Breast cancer, male 0 1 TRUE Included in national screening panel 0 0 0
PNP Nucleoside phosphorylase deficiency 0 1 TRUE Included in national screening panel 0 0 0
POR Altered function 0 1 TRUE Included in national screening panel 0 0 0
ABAT GABA-transaminase deficiency 0 1 NAN - 0 0 0
ALG2 Congenital disorder of glycosylation 1i 0 1 TRUE Included in national screening panel 0 0 0
ALG3 Congenital disorder of glycosylation 0 1 TRUE Included in national screening panel 0 0 0
ALG8 Congenital disorder of glycosylation 1h 0 1 TRUE Included in national screening panel 0 0 0
BBS5 Phenotype modifier 0 1 TRUE Included in national screening panel 0 0 0
BBS7 Bardet-Biedl syndrome, modifier of 0 1 TRUE Included in national screening panel 0 0 0
BBS9 Retinitis pigmentosa 0 1 TRUE Included in national screening panel 0 0 0
CCN6 Pseudorheumatoid dysplasia, progressive 0 1 TRUE Included in national screening panel 0 0 0
CLMP Congenital short-bowel syndrome 0 1 TRUE Included in national screening panel 0 0 0
COG7 Schizophrenia 0 1 TRUE Included in national screening panel 0 0 0
CRB1 Leber congenital amaurosis 8 0 1 TRUE Included in national screening panel 0 0 0
CRB2 Congenital nephrosis, Finnish type-like, with cerebral ventriculomegaly & raised alpha-fetoprotein 0 1 TRUE Included in national screening panel 0 0 0
CTSK Pycnodysostosis 0 1 TRUE Included in national screening panel 0 0 0
DLL3 Congenital scoliosis 0 1 TRUE Included in national screening panel 0 0 0
ELP1 Autism spectrum disorder 0 1 TRUE Included in national screening panel 0 0 0
EPG5 Vici syndrome 0 1 TRUE Included in national screening panel 0 0 0
ESPN Hearing loss 0 1 TRUE Included in national screening panel 0 0 0
FA2H Spastic paraplegia 35 0 1 TRUE Included in national screening panel 0 0 0
FBP1 Fructose-1,6-bisphosphatase deficiency 0 1 TRUE Included in national screening panel 0 0 0
FIG4 Amyotrophic lateral sclerosis, sporadic 0 1 TRUE Included in national screening panel 0 0 0
GBE1 Glycogen storage disease 4 0 1 TRUE Included in national screening panel 0 0 0
GLB1 GM1-gangliosidosis 0 1 TRUE Included in national screening panel 0 0 0
GPHN Hyperekplexia 0 1 TRUE Included in national screening panel 0 0 0
KIF7 Macrocephaly, multiple epiphyseal dysplasia & facial features 0 1 TRUE Included in national screening panel 0 0 0
LIG4 Marfan syndrome, early-onset 0 1 TRUE Included in national screening panel 0 0 0
LMNA Mandibuloacral dysplasia 0 1 TRUE Included in national screening panel 0 0 0
MMUT Methylmalonic aciduria 0 1 TRUE Included in national screening panel 0 0 0
NCF2 Chronic granulomatous disease 0 1 TRUE Included in national screening panel 0 0 0
NEK1 Amyotrophic lateral sclerosis 0 1 TRUE Included in national screening panel 0 0 0
NEK8 Renal disease with hepatic and cardiac anomalies 0 1 TRUE Included in national screening panel 0 0 0
OPA1 Optic atrophy plus syndrome 0 1 TRUE Included in national screening panel 0 0 0
PCCB Propionicacidemia 0 1 TRUE Included in national screening panel 0 0 0
PDP1 Tourette syndrome 0 1 TRUE Included in national screening panel 0 0 0
PGM1 Congenital disorder of glycosylation 0 1 TRUE Included in national screening panel 0 0 0
PYGL Glycogen storage disease 6 0 1 TRUE Included in national screening panel 0 0 0
RAG1 Omenn syndrome 0 1 TRUE Included in national screening panel 0 0 0
SGCD Muscular dystrophy 0 1 TRUE Included in national screening panel 0 0 0
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A) 0 1 TRUE Included in national screening panel 0 0 0
TMC1 Deafness 0 1 TRUE Included in national screening panel 0 0 0
WHRN Usher syndrome 0 1 TRUE Included in national screening panel 0 0 0
ABCC8 Hyperinsulinism 0 1 TRUE Included in national screening panel 0 0 0
ACADM Acyl-CoA dehydrogenase 0 1 TRUE Included in national screening panel 0 0 0
AIPL1 Leber congenital amaurosis IV 0 1 TRUE Included in national screening panel 0 0 0
ANO10 Cerebellar ataxia 3 0 1 TRUE Included in national screening panel 0 0 0
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy 0 1 TRUE Included in national screening panel 0 0 0
BCS1L GRACILE syndrome 0 1 TRUE Included in national screening panel 0 0 0
C2CD3 Autism spectrum disorder 0 1 TRUE Included in national screening panel 0 0 0
CABP4 Retinal dystrophy 0 1 TRUE Included in national screening panel 0 0 0
CENPJ Intellectual disability 0 1 TRUE Included in national screening panel 0 0 0
CHRNE Congenital myasthenic syndrome 0 1 TRUE Included in national screening panel 0 0 0
COX15 Hypertrophic cardiomyopathy, early onset 0 1 TRUE Included in national screening panel 0 0 0
COX20 Dysarthria, ataxia and sensory neuropathy 0 1 TRUE Included in national screening panel 0 0 0
DARS2 Leukoencephalopathy with brainstem & spinal cord involvement 0 1 TRUE Included in national screening panel 0 0 0
DOCK8 Immunodeficiency, primary 0 1 TRUE Included in national screening panel 0 0 0
ECEL1 Arthrogryposis 0 1 TRUE Included in national screening panel 0 0 0
ECHS1 Short-chain enoyl-CoA hydratase deficiency 0 1 TRUE Included in national screening panel 0 0 0
ERCC2 Basal cell carcinoma, reduced risk, association with 0 1 TRUE Included in national screening panel 0 0 0
FBXO7 Parkinsonism, juvenile 0 1 TRUE Included in national screening panel 0 0 0
GALNS Mucopolysaccharidosis IVA 0 1 TRUE Included in national screening panel 0 0 0
GFPT1 Congenital myasthenic syndrome 0 1 TRUE Included in national screening panel 0 0 0
HADHB Mitochondrial trifunctional protein deficiency 0 1 TRUE Included in national screening panel 0 0 0
ITGB2 Leukocyte adhesion deficiency 0 1 TRUE Included in national screening panel 0 0 0
ITGB4 Hirschsprung disease 0 1 TRUE Included in national screening panel 0 0 0
KCNV2 Retinal cone dystrophy 3B 0 1 TRUE Included in national screening panel 0 0 0
LAMB2 Pierson syndrome/ nephrotic syndrome type 5 0 1 TRUE Included in national screening panel 0 0 0
LAMC2 Epidermolysis bullosa, Herlitz 0 1 TRUE Included in national screening panel 0 0 0
LMAN1 Factor V and factor VIII deficiency, combined 0 1 TRUE Included in national screening panel 0 0 0
LMBR1 Triphalangeal thumbs and preaxial polydactyly 0 1 TRUE Included in national screening panel 0 0 0
MPV17 Mitochondrial DNA depletion syndrome, hepatocerebral 0 1 TRUE Included in national screening panel 0 0 0
MRE11 Breast cancer 0 1 TRUE Included in national screening panel 0 0 0
NUBPL Complex I deficiency 0 1 TRUE Included in national screening panel 0 0 0
PDE6B Retinitis pigmentosa, pericentral 0 1 TRUE Included in national screening panel 0 0 0
PEX12 Peroxisome biogenesis disorder 3B 0 1 TRUE Included in national screening panel 0 0 0
PEX16 Peroxisome biogenesis disorder 8B 0 1 TRUE Included in national screening panel 0 0 0
PEX26 Refsum disease, infantile 0 1 TRUE Included in national screening panel 0 0 0
PHGDH Neu-Laxova syndrome 1 0 1 TRUE Included in national screening panel 0 0 0
QARS1 Microcephaly 0 1 TRUE Included in national screening panel 0 0 0
ROBO3 Gaze palsy 0 1 TRUE Included in national screening panel 0 0 0
SCN9A Childhood absence epilepsy 0 1 TRUE Included in national screening panel 0 0 0
SMPD1 Niemann-Pick disease 0 1 TRUE Included in national screening panel 0 0 0
TMCO1 Cerebro-facio-thoracic dysplasia 0 1 TRUE Included in national screening panel 0 0 0
TTC7A Immunodeficiency, combined, with intestinal atresias 0 1 TRUE Included in national screening panel 0 0 0
VARS2 Mitochondrial encephalopathy 0 1 TRUE Included in national screening panel 0 0 0
VPS53 Parkinson disease, early onset 0 1 TRUE Included in national screening panel 0 0 0
WDR35 Short rib-polydactyly syndrome 0 1 TRUE Included in national screening panel 0 0 0
WDR62 Microcephaly, primary 0 1 TRUE Included in national screening panel 0 0 0
XYLT1 Desbuquois dysplasia 2 0 1 TRUE Included in national screening panel 0 0 0
AKR1D1 Bile acid synthesis defect 0 1 TRUE Included in national screening panel 0 0 0
ANTXR2 Hyaline fibromatosis syndrome 0 1 TRUE Included in national screening panel 0 0 0
B3GLCT Peters-Plus syndrome 0 1 TRUE Included in national screening panel 0 0 0
CEP152 Seckel syndrome 0 1 TRUE Included in national screening panel 0 0 0
CLCNKB Bartter syndrome 0 1 TRUE Included in national screening panel 0 0 0
DNAAF1 Neural tube defects 0 1 TRUE Included in national screening panel 0 0 0
DPAGT1 Congenital disorder of glycosylation 1 0 1 TRUE Included in national screening panel 0 0 0
EXOSC3 Pontocerebellar hypoplasia 1 0 1 TRUE Included in national screening panel 0 0 0
FLVCR1 Posterior column ataxia & retinitis pigmentosa 0 1 TRUE Included in national screening panel 0 0 0
FRRS1L Intellectual disability, developmental delay & seizures 0 1 TRUE Included in national screening panel 0 0 0
GNPTAB Mucolipidosis III alpha/beta 0 1 TRUE Included in national screening panel 0 0 0
IFT140 Leber congenital amaurosis 0 1 TRUE Included in national screening panel 0 0 0
MMADHC Homocystinuria, cblD type 0 1 TRUE Included in national screening panel 0 0 0
MPLKIP Trichothiodystrophy, nonphotosensitive 0 1 TRUE Included in national screening panel 0 0 0
NDUFS1 Neurodevelopmental disorder 0 1 TRUE Included in national screening panel 0 0 0
NKX6-2 Spastic ataxia 8 0 1 TRUE Included in national screening panel 0 0 0
PRUNE1 Hypotonia, microcephaly and global developmental delay 0 1 TRUE Included in national screening panel 0 0 0
RECQL4 Baller-Gerold syndrome 0 1 TRUE Included in national screening panel 0 0 0
RFXANK MHC class II deficiency 0 1 TRUE Included in national screening panel 0 0 0
SLC2A1 Glucose transporter type 1 deficiency syndrome 0 1 TRUE Included in national screening panel 0 0 0
TSEN54 Intellectual disability & epilepsy 0 1 TRUE Included in national screening panel 0 0 0
VPS33B Arthrogryposis, renal dysfunction and cholestasis 0 1 TRUE Included in national screening panel 0 0 0
ATP13A2 Kufor-Rakeb syndrome 0 1 TRUE Included in national screening panel 0 0 0
CCDC103 Primary ciliary dyskinesia 0 1 TRUE Included in national screening panel 0 0 0
CNTNAP1 Hypomyelinating neuropathy 0 1 TRUE Included in national screening panel 0 0 0
COL18A1 Knobloch syndrome 0 1 TRUE Included in national screening panel 0 0 0
FAM161A Retinitis pigmentosa 0 1 TRUE Included in national screening panel 0 0 0
FOXRED1 Complex I deficiency 0 1 TRUE Included in national screening panel 0 0 0
HSD17B3 Pseudohermaphroditism, male 0 1 TRUE Included in national screening panel 0 0 0
HSD17B4 D-bifunctional protein deficiency 0 1 TRUE Included in national screening panel 0 0 0
MAPKBP1 Nephronophthisis, late onset 0 1 TRUE Included in national screening panel 0 0 0
NDUFAF5 Leigh syndrome/Mitochondrial Complex I deficiency 0 1 TRUE Included in national screening panel 0 0 0
SEPSECS Cerebellar atrophy 0 1 TRUE Included in national screening panel 0 0 0
SLC19A3 Wernicke's-like encephalopathy 0 1 TRUE Included in national screening panel 0 0 0
SLC22A5 Carnitine deficiency 0 1 TRUE Included in national screening panel 0 0 0
SLC35D1 Schneckenbecken dysplasia 0 1 TRUE Included in national screening panel 0 0 0
SLC38A8 Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis 0 1 TRUE Included in national screening panel 0 0 0
TMEM237 Joubert syndrome related disorder 0 1 TRUE Included in national screening panel 0 0 0
TRAPPC9 Hypogonadotropic hypogonadism, normosmic 0 1 TRUE Included in national screening panel 0 0 0
TRMT10A Neurodevelopmental disorder 0 1 TRUE Included in national screening panel 0 0 0
XPNPEP3 NPHP-like kidney disease 0 1 TRUE Included in national screening panel 0 0 0
ADAMTS13 Reduced expression 0 1 TRUE Included in national screening panel 0 0 0
B3GALNT2 Muscular dystrophy-dystroglycanopathy 0 1 TRUE Included in national screening panel 0 0 0
B4GALNT1 Spastic paraplegia 0 1 TRUE Included in national screening panel 0 0 0
PRICKLE1 Neural tube defects 0 1 TRUE Included in national screening panel 0 0 0
RNASEH2B Aicardi-Goutières syndrome 0 1 TRUE Included in national screening panel 0 0 0
RNASEH2C Aicardi-Goutieres syndrome 3 0 1 TRUE Included in national screening panel 0 0 0
SLC25A19 Thiamine metabolism dysfunction syndrome 4 0 1 TRUE Included in national screening panel 0 0 0
SLC39A14 ?Hyperostosis cranalis interna 0 1 TRUE Included in national screening panel 0 0 0