Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, and ovarian failure in females False 1 0;0;0 0.278 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency False 1 0;0;0 0.278 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCB7 gene ABCB7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Sideroblastic anaemia and ataxia False 1 0;0;0 0.278 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC9 gene ABCC9 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial;Cardiomyopathy, dilated;Hypertrichotic osteochondrodysplasia False 1 0;0;0 0.278 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCD4 gene ABCD4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type False 1 0;0;0 0.278 False ENSG00000119688 ENSG00000119688 HGNC:68 ACADL gene ACADL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sudden infant death False 1 0;0;0 0.278 False ENSG00000115361 ENSG00000115361 HGNC:88 ACADS gene ACADS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 False 1 0;0;100 0.278 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 2-Methylbutyryl-CoA dehydrogenase deficiency False 1 0;0;0 0.278 False ENSG00000196177 ENSG00000196177 HGNC:91 ACBD5 gene ACBD5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia False 1 0;0;0 0.278 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar-retinal degeneration, infantile False 1 0;0;0 0.278 False ENSG00000100412 ENSG00000100412 HGNC:118 ACSF3 gene ACSF3 BabySeq Category A gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria 21841779;30740739 False 1 0;0;100 0.278 True ENSG00000176715 ENSG00000176715 HGNC:27288 ACTA1 gene ACTA1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy;Congenital myopathy with fiber type disproportion False 1 0;0;0 0.278 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTB gene ACTB BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutrophil dysfunction and recurrent infection;Baraitser-Winter syndrome False 1 0;0;0 0.278 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction;Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated;Atrial septal defect False 1 0;0;0 0.278 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000077522 ENSG00000077522 HGNC:164 ACVR2B gene ACVR2B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Left-right axis malformation False 1 0;0;0 0.278 False ENSG00000114739 ENSG00000114739 HGNC:174 ADAM17 gene ADAM17 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neonatal inflammatory skin and bowel disease False 1 0;0;0 0.278 False ENSG00000151694 ENSG00000151694 HGNC:195 ADAMTS2 gene ADAMTS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome VIIc False 1 0;0;0 0.278 False ENSG00000087116 ENSG00000087116 HGNC:218 AGPS gene AGPS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 False 1 0;0;0 0.278 False ENSG00000018510 ENSG00000018510 HGNC:327 AGT gene AGT BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 1 0;0;0 0.278 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 1 0;0;0 0.278 False ENSG00000144891 ENSG00000144891 HGNC:336 AHSP gene AHSP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thalassaemia False 1 0;0;0 0.278 False ENSG00000169877 ENSG00000169877 HGNC:18075 AK1 gene AK1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to adenylate kinase deficiency False 1 0;0;0 0.278 False ENSG00000106992 ENSG00000106992 HGNC:361 AKAP9 gene AKAP9 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 0.278 False ENSG00000127914 ENSG00000127914 HGNC:379 AKT2 gene AKT2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe insulin resistance and diabetes mellitus False 1 0;0;0 0.278 False ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome False 1 0;0;0 0.278 False ENSG00000117020 ENSG00000117020 HGNC:393 ALDH1A2 gene ALDH1A2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 0.278 False ENSG00000128918 ENSG00000128918 HGNC:15472 ALDH4A1 gene ALDH4A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II False 1 0;0;0 0.278 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDOA gene ALDOA BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aldolase A deficiency False 1 0;0;0 0.278 False ENSG00000149925 ENSG00000149925 HGNC:414 ALG11 gene ALG11 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1P False 1 0;0;0 0.278 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG2 gene ALG2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii False 1 0;0;0 0.278 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMACR gene AMACR BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency;Bile acid synthesis defect, congenital, 4 False 1 0;0;0 0.278 False ENSG00000242110 ENSG00000242110 HGNC:451 AMPD1 gene AMPD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Adenosine monophosphate deaminase deficiency False 1 0;0;0 0.278 False ENSG00000116748 ENSG00000116748 HGNC:468 ANKRD1 gene ANKRD1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000148677 ENSG00000148677 HGNC:15819 ANO5 gene ANO5 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gnathodiaphyseal dysplasia;Muscular dystrophy, limb-girdle, type 2L False 1 0;0;0 0.278 False ENSG00000171714 ENSG00000171714 HGNC:27337 AP1S3 gene AP1S3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pustular psoriasis False 1 0;0;0 0.278 False ENSG00000152056 ENSG00000152056 HGNC:18971 APOE gene APOE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sea-blue histiocyte disease False 1 0;0;0 0.278 False ENSG00000130203 ENSG00000130203 HGNC:613 APP gene APP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial False 1 0;0;0 0.278 False ENSG00000142192 ENSG00000142192 HGNC:620 ARHGAP31 gene ARHGAP31 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic cutis aplasia & limb anomalies False 1 0;0;0 0.278 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGEF9 gene ARHGEF9 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperekplexia and epilepsy False 1 0;0;0 0.278 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome False 1 0;0;0 0.278 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARL13B gene ARL13B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 0.278 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARSE gene ARSE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive False 1 0;0;0 0.278 False ENSG00000157399 ENSG00000157399 HGNC:719 ASCL1 gene ASCL1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital central hypoventilation False 1 0;0;0 0.278 False ENSG00000139352 ENSG00000139352 HGNC:738 ASNS gene ASNS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, intellectual disability, cerebral atrophy & intractable seizures False 1 0;0;0 0.278 False ENSG00000070669 ENSG00000070669 HGNC:753 ATIC gene ATIC BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal AICA-Ribosiduria False 1 0;0;0 0.278 False ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy 1 False 1 0;0;0 0.278 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A3 gene ATP1A3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rapid-onset dystonia-parkinsonism False 1 0;0;0 0.278 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP6AP2 gene ATP6AP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked recessive intellectual deficit - epilepsy False 1 0;0;0 0.278 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATR gene ATR BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome False 1 0;0;0 0.278 False ENSG00000175054 ENSG00000175054 HGNC:882 AXL gene AXL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism False 1 0;0;0 0.278 False ENSG00000167601 ENSG00000167601 HGNC:905 B3GAT3 gene B3GAT3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects False 1 0;0;0 0.278 False ENSG00000149541 ENSG00000149541 HGNC:923 B4GALT1 gene B4GALT1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal CDG syndrome type IId False 1 0;0;0 0.278 False ENSG00000086062 ENSG00000086062 HGNC:924 B9D2 gene B9D2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome False 1 0;0;0 0.278 False ENSG00000123810 ENSG00000123810 HGNC:28636 BAG3 gene BAG3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000151929 ENSG00000151929 HGNC:939 BANF1 gene BANF1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Progeroid syndrome False 1 0;0;0 0.278 False ENSG00000175334 ENSG00000175334 HGNC:17397 BARD1 gene BARD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 0.278 False ENSG00000138376 ENSG00000138376 HGNC:952 BCL9 gene BCL9 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000116128 ENSG00000116128 HGNC:1008 BDNF gene BDNF BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome False 1 0;0;0 0.278 False ENSG00000176697 ENSG00000176697 HGNC:1033 BLOC1S3 gene BLOC1S3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8 False 1 0;0;0 0.278 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S6 gene BLOC1S6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-pudlak syndrome 9 False 1 0;0;0 0.278 False ENSG00000104164 ENSG00000104164 HGNC:8549 BNC2 gene BNC2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Total anomalous pulmonary venous return False 1 0;0;0 0.278 False ENSG00000173068 ENSG00000173068 HGNC:30988 BPGM gene BPGM BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Erythrocytosis due to bisphosphoglycerate mutase deficiency False 1 0;0;0 0.278 False ENSG00000172331 ENSG00000172331 HGNC:1093 BRCA1 gene BRCA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 1 False 1 0;0;0 0.278 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 2;Fanconi anemia, complementation group D1 False 1 0;0;0 0.278 False ENSG00000139618 ENSG00000139618 HGNC:1101 BVES gene BVES BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000112276 ENSG00000112276 HGNC:1152 C3 gene C3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000125730 ENSG00000125730 HGNC:1318 CACNA1D gene CACNA1D BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sinoatrial node dysfunction and deafness False 1 0;0;0 0.278 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1S gene CACNA1S BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia False 1 0;0;0 0.278 False ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA2D1 gene CACNA2D1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000165995 ENSG00000165995 HGNC:1402 CARS2 gene CARS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy False 1 0;0;0 0.278 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASP10 gene CASP10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome II False 1 0;0;0 0.278 False ENSG00000003400 ENSG00000003400 HGNC:1500 CAVIN4 gene CAVIN4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000170681 ENSG00000170681 HGNC:33742 CCDC103 gene CCDC103 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC50 gene CCDC50 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 44 , MIM# 607453 17503326;27911912;24875298 False 1 50;0;50 0.278 True ENSG00000152492 ENSG00000152492 HGNC:18111 CCDC78 gene CCDC78 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy with prominent internal nuclei and atypical cores False 1 0;0;0 0.278 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC88C gene CCDC88C BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hydrocephalus False 1 0;0;0 0.278 False ENSG00000015133 ENSG00000015133 HGNC:19967 CD2AP gene CD2AP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 3 False 1 0;0;0 0.278 False ENSG00000198087 ENSG00000198087 HGNC:14258 CD36 gene CD36 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Platelet glycoprotein IV deficiency False 1 0;0;0 0.278 False ENSG00000135218 ENSG00000135218 HGNC:1663 CD46 gene CD46 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD96 gene CD96 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal C syndrome False 1 0;0;0 0.278 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDH1 gene CDH1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial clefts;Gastric cancer False 1 0;0;0 0.278 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDON gene CDON BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly False 1 0;0;0 0.278 False ENSG00000064309 ENSG00000064309 HGNC:17104 CEACAM16 gene CEACAM16 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss, autosomal dominant False 1 0;0;0 0.278 False ENSG00000213892 ENSG00000213892 HGNC:31948 CENPJ gene CENPJ BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary microcephaly False 1 0;0;0 0.278 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP41 gene CEP41 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 0.278 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFB gene CFB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFD gene CFD BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Complement factor D deficiency False 1 0;0;0 0.278 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR3 gene CFHR3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Hemolytic-uremic syndrome, atypical, susceptibility to False 1 0;0;0 0.278 False ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHEK2 gene CHEK2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, susceptibility to False 1 0;0;0 0.278 False ENSG00000183765 ENSG00000183765 HGNC:16627 CHRM2 gene CHRM2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000181072 ENSG00000181072 HGNC:1951 CHRNA2 gene CHRNA2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy False 1 0;0;0 0.278 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNB1 gene CHRNB1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 1 0;0;0 0.278 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHST3 gene CHST3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Larsen syndrome False 1 0;0;0 0.278 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome False 1 0;0;0 0.278 False ENSG00000131873 ENSG00000131873 HGNC:17198 CISD2 gene CISD2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome False 1 0;0;0 0.278 False ENSG00000145354 ENSG00000145354 HGNC:24212 CITED2 gene CITED2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 0.278 False ENSG00000164442 ENSG00000164442 HGNC:1987 CLCN1 gene CLCN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, dominant, MIM# 160800;Myotonia congenita, recessive, MIM# 255700 False 1 0;0;100 0.278 True ENSG00000188037 ENSG00000188037 HGNC:2019 CLDN1 gene CLDN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis False 1 0;0;0 0.278 False ENSG00000163347 ENSG00000163347 HGNC:2032 CLMP gene CLMP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital short-bowel syndrome False 1 0;0;0 0.278 False ENSG00000166250 ENSG00000166250 HGNC:24039 CNTNAP2 gene CNTNAP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Autism spectrum disorder False 1 0;0;0 0.278 False ENSG00000174469 ENSG00000174469 HGNC:13830 COG4 gene COG4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj False 1 0;0;0 0.278 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG7 gene COG7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe False 1 0;0;0 0.278 False ENSG00000168434 ENSG00000168434 HGNC:18622 COQ2 gene COQ2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1 False 1 0;0;0 0.278 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome with sensorineural deafness False 1 0;0;0 0.278 False ENSG00000119723 ENSG00000119723 HGNC:20233 COX4I2 gene COX4I2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis False 1 0;0;0 0.278 False ENSG00000131055 ENSG00000131055 HGNC:16232 CPOX gene CPOX BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coproporphyria False 1 0;0;0 0.278 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPZ gene CPZ BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism False 1 0;0;0 0.278 False ENSG00000109625 ENSG00000109625 HGNC:2333 CR2 gene CR2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypogammaglobulinaemia False 1 0;0;0 0.278 False ENSG00000117322 ENSG00000117322 HGNC:2336 CRELD1 gene CRELD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac atrioventricular septal defect False 1 0;0;0 0.278 False ENSG00000163703 ENSG00000163703 HGNC:14630 CSF1R gene CSF1R BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, diffuse hereditary, with spheroids False 1 0;0;0 0.278 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSF2RB gene CSF2RB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar proteinosis False 1 0;0;0 0.278 False ENSG00000100368 ENSG00000100368 HGNC:2436 CSRP3 gene CSRP3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 12;Cardiomyopathy, dilated, 1M False 1 0;0;0 0.278 False ENSG00000129170 ENSG00000129170 HGNC:2472 CSTA gene CSTA BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Exfoliative ichthyosis False 1 0;0;0 0.278 False ENSG00000121552 ENSG00000121552 HGNC:2481 CTDP1 gene CTDP1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital cataracts - facial dysmorphism - neuropathy False 1 0;0;0 0.278 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTF1 gene CTF1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000150281 ENSG00000150281 HGNC:2499 CYCS gene CYCS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4 False 1 0;0;0 0.278 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP7A1 gene CYP7A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency False 1 0;0;0 0.278 False ENSG00000167910 ENSG00000167910 HGNC:2651 CYP7B1 gene CYP7B1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, severe False 1 0;0;0 0.278 False ENSG00000172817 ENSG00000172817 HGNC:2652 DAG1 gene DAG1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 False 1 0;0;0 0.278 False ENSG00000173402 ENSG00000173402 HGNC:2666 DAPK3 gene DAPK3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000167657 ENSG00000167657 HGNC:2676 DBH gene DBH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 1 0;0;0 0.278 False ENSG00000123454 ENSG00000123454 HGNC:2689 DCTN1 gene DCTN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 0.278 False ENSG00000204843 ENSG00000204843 HGNC:2711 DDHD1 gene DDHD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia False 1 0;0;0 0.278 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDOST gene DDOST BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir False 1 0;0;0 0.278 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDR2 gene DDR2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type False 1 0;0;0 0.278 False ENSG00000162733 ENSG00000162733 HGNC:2731 DECR1 gene DECR1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 2,4-Dienoyl-CoA reductase deficiency False 1 0;0;0 0.278 False ENSG00000104325 ENSG00000104325 HGNC:2753 DGKE gene DGKE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome, atypical False 1 0;0;0 0.278 False ENSG00000153933 ENSG00000153933 HGNC:2852 DHCR24 gene DHCR24 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Desmosterolosis False 1 0;0;0 0.278 False ENSG00000116133 ENSG00000116133 HGNC:2859 DIABLO gene DIABLO BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 1 0;0;0 0.278 False ENSG00000184047 ENSG00000184047 HGNC:21528 DLC1 gene DLC1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000164741 ENSG00000164741 HGNC:2897 DNAAF2 gene DNAAF2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF5 gene DNAAF5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAI2 gene DNAI2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJC19 gene DNAJC19 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V False 1 0;0;0 0.278 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal ceroid lipofuscinosis, adult-onset False 1 0;0;0 0.278 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAL1 gene DNAL1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000119661 ENSG00000119661 HGNC:23247 DPM1 gene DPM1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie False 1 0;0;0 0.278 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPP6 gene DPP6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular fibrillation, paroxysmal familial, 2 False 1 0;0;0 0.278 False ENSG00000130226 ENSG00000130226 HGNC:3010 DPYD gene DPYD BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency False 1 0;0;0 0.278 False ENSG00000188641 ENSG00000188641 HGNC:3012 DTHD1 gene DTHD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with myopathy False 1 0;0;0 0.278 False ENSG00000197057 ENSG00000197057 HGNC:37261 DTNA gene DTNA BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 1 False 1 0;0;0 0.278 False ENSG00000134769 ENSG00000134769 HGNC:3057 DTNBP1 gene DTNBP1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7 False 1 0;0;0 0.278 False ENSG00000047579 ENSG00000047579 HGNC:17328 ECE1 gene ECE1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease False 1 0;0;0 0.278 False ENSG00000117298 ENSG00000117298 HGNC:3146 EFEMP2 gene EFEMP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB False 1 0;0;0 0.278 False ENSG00000172638 ENSG00000172638 HGNC:3219 EFHC1 gene EFHC1 BabySeq Category A gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 31056551;28370826;29750216;33969125;33181902 False 1 0;0;100 0.278 True ENSG00000096093 ENSG00000096093 HGNC:16406 EIF2B1 gene EIF2B1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter False 1 0;0;0 0.278 False ENSG00000111361 ENSG00000111361 HGNC:3257 EPB42 gene EPB42 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spherocytosis False 1 0;0;0 0.278 False ENSG00000166947 ENSG00000166947 HGNC:3381 EPCAM gene EPCAM BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 0.278 False ENSG00000119888 ENSG00000119888 HGNC:11529 EPHX1 gene EPHX1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial False 1 0;0;0 0.278 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERBB3 gene ERBB3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2 False 1 0;0;0 0.278 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 1 0;0;0 0.278 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC3 gene ERCC3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 1 0;0;0 0.278 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 1 0;0;0 0.278 False ENSG00000175595 ENSG00000175595 HGNC:3436 F13B gene F13B Expert list;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Factor XIIIB deficiency MIM# 613235 PMID: 31013569 False 1 0;0;100 0.278 True ENSG00000143278 ENSG00000143278 HGNC:3534 FAAH2 gene FAAH2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Autism spectrum disorder False 1 0;0;0 0.278 False ENSG00000165591 ENSG00000165591 HGNC:26440 FAM111B gene FAM111B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis False 1 0;0;0 0.278 False ENSG00000189057 ENSG00000189057 HGNC:24200 FANCE gene FANCE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;0 0.278 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;0 0.278 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCL gene FANCL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;0 0.278 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;0 0.278 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBLN5 gene FBLN5 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutis laxa;Age-related macular degeneration False 1 0;0;0 0.278 False ENSG00000140092 ENSG00000140092 HGNC:3602 FHL1 gene FHL1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myofibrillar myopathy;Emery-Dreifuss muscular dystrophy False 1 0;0;0 0.278 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL2 gene FHL2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000115641 ENSG00000115641 HGNC:3703 FKBPL gene FKBPL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infertility False 1 0;0;0 0.278 False ENSG00000204315 ENSG00000204315 HGNC:13949 FLG gene FLG BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis vulgaris False 1 0;0;0 0.278 False ENSG00000143631 ENSG00000143631 HGNC:3748 FLNC gene FLNC BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 0.278 False ENSG00000128591 ENSG00000128591 HGNC:3756 FMO3 gene FMO3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria False 1 0;0;0 0.278 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOXE1 gene FOXE1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome False 1 0;0;0 0.278 False ENSG00000178919 ENSG00000178919 HGNC:3806 FOXF2 gene FOXF2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of sex development with cleft palate False 1 0;0;0 0.278 False ENSG00000137273 ENSG00000137273 HGNC:3810 FOXH1 gene FOXH1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 0.278 False ENSG00000160973 ENSG00000160973 HGNC:3814 FOXN1 gene FOXN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital alopecia with T-cell immunodeficiency False 1 0;0;0 0.278 False ENSG00000109101 ENSG00000109101 HGNC:12765 FREM1 gene FREM1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Manitoba oculotrichoanal syndrome False 1 0;0;0 0.278 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 1 0;0;0 0.278 False ENSG00000150893 ENSG00000150893 HGNC:25396 FSCN2 gene FSCN2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa False 1 0;0;0 0.278 False ENSG00000186765 ENSG00000186765 HGNC:3960 FTCD gene FTCD BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency False 1 0;0;0 0.278 False ENSG00000160282 ENSG00000160282 HGNC:3974 GABRA1 gene GABRA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, idiopathic generalised False 1 0;0;0 0.278 False ENSG00000022355 ENSG00000022355 HGNC:4075 GATA1 gene GATA1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Porphyria, congenital erythropoietic;Dyserythropoietic anemia with thrombocytopenia False 1 0;0;0 0.278 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA5 gene GATA5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial atrial fibrillation False 1 0;0;0 0.278 False ENSG00000130700 ENSG00000130700 HGNC:15802 GATA6 gene GATA6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 0.278 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD1 gene GATAD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2B False 1 0;0;0 0.278 False ENSG00000157259 ENSG00000157259 HGNC:29941 GBE1 gene GBE1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form;Glycogen storage disease IV False 1 0;0;0 0.278 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCLC gene GCLC BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency False 1 0;0;0 0.278 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy False 1 0;0;0 0.278 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDF1 gene GDF1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 0.278 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDNF gene GDNF BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease;Central hypoventilation syndrome False 1 0;0;0 0.278 False ENSG00000168621 ENSG00000168621 HGNC:4232 GFER gene GFER BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay False 1 0;0;0 0.278 False ENSG00000127554 ENSG00000127554 HGNC:4236 GLE1 gene GLE1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lethal arthrogryposis with anterior horn cell disease False 1 0;0;0 0.278 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLI2 gene GLI2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-9 False 1 0;0;0 0.278 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLIS3 gene GLIS3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism False 1 0;0;0 0.278 False ENSG00000107249 ENSG00000107249 HGNC:28510 GLRB gene GLRB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, autosomal recessive False 1 0;0;0 0.278 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLUL gene GLUL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital brain dysgenesis due to glutamine synthetase deficiency False 1 0;0;0 0.278 False ENSG00000135821 ENSG00000135821 HGNC:4341 GMPPA gene GMPPA BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation False 1 0;0;0 0.278 False ENSG00000144591 ENSG00000144591 HGNC:22923 GPC4 gene GPC4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome False 1 0;0;0 0.278 False ENSG00000076716 ENSG00000076716 HGNC:4452 GPC6 gene GPC6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Omodysplasia False 1 0;0;0 0.278 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPHN gene GPHN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia False 1 0;0;0 0.278 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPX1 gene GPX1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione peroxidase deficiency False 1 0;0;0 0.278 False ENSG00000233276 ENSG00000233276 HGNC:4553 GRIN2A gene GRIN2A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy with neurodevelopmental defects False 1 0;0;0 0.278 False ENSG00000183454 ENSG00000183454 HGNC:4585 GTF2H5 gene GTF2H5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy False 1 0;0;0 0.278 False ENSG00000272047 ENSG00000272047 HGNC:21157 GUCY2C gene GUCY2C BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meconium ileus False 1 0;0;0 0.278 False ENSG00000070019 ENSG00000070019 HGNC:4688 GYG1 gene GYG1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV False 1 0;0;0 0.278 False ENSG00000163754 ENSG00000163754 HGNC:4699 H19 gene H19 BabySeq Category A gene;Expert Review Red Additional findings_Paediatric Screening Unknown Beckwith-Wiedemann Syndrome False 1 0;0;100 0.278 True ENSG00000130600 ENSG00000130600 HGNC:4713 HAMP gene HAMP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis False 1 0;0;0 0.278 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS gene HARS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B False 1 0;0;0 0.278 False ENSG00000170445 ENSG00000170445 HGNC:4816 HAS2 gene HAS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000170961 ENSG00000170961 HGNC:4819 HCCS gene HCCS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia False 1 0;0;0 0.278 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCN4 gene HCN4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000138622 ENSG00000138622 HGNC:16882 HERC2 gene HERC2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Autism spectrum disorder False 1 0;0;0 0.278 False ENSG00000128731 ENSG00000128731 HGNC:4868 HESX1 gene HESX1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hypoplasia False 1 0;0;0 0.278 False ENSG00000163666 ENSG00000163666 HGNC:4877 HFE gene HFE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis False 1 0;0;0 0.278 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis False 1 0;0;0 0.278 False ENSG00000168509 ENSG00000168509 HGNC:4887 HIBCH gene HIBCH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, progressive infantile False 1 0;0;0 0.278 False ENSG00000198130 ENSG00000198130 HGNC:4908 HK1 gene HK1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to hexokinase deficiency False 1 0;0;0 0.278 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMBS gene HMBS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent False 1 0;0;0 0.278 False ENSG00000256269 ENSG00000256269 HGNC:4982 HNF1B gene HNF1B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome False 1 0;0;0 0.278 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOMEZ gene HOMEZ BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000215271 ENSG00000215271 HGNC:20164 HOXA1 gene HOXA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome False 1 0;0;0 0.278 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPD gene HPD BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type III False 1 0;0;0 0.278 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPS6 gene HPS6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 False 1 0;0;0 0.278 False ENSG00000166189 ENSG00000166189 HGNC:18817 HYDIN gene HYDIN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 0.278 False ENSG00000157423 ENSG00000157423 HGNC:19368 HYLS1 gene HYLS1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome False 1 0;0;0 0.278 False ENSG00000198331 ENSG00000198331 HGNC:26558 IFT122 gene IFT122 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 0.278 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT43 gene IFT43 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 0.278 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT80 gene IFT80 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy 2 False 1 0;0;0 0.278 False ENSG00000068885 ENSG00000068885 HGNC:29262 IGBP1 gene IGBP1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia False 1 0;0;0 0.278 False ENSG00000089289 ENSG00000089289 HGNC:5461 IGF1 gene IGF1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor deficiency False 1 0;0;0 0.278 False ENSG00000017427 ENSG00000017427 HGNC:5464 IL10RB gene IL10RB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease False 1 0;0;0 0.278 False ENSG00000243646 ENSG00000243646 HGNC:5965 ILK gene ILK BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000166333 ENSG00000166333 HGNC:6040 IRS1 gene IRS1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, noninsulin dependent False 1 0;0;0 0.278 False ENSG00000169047 ENSG00000169047 HGNC:6125 ISCU gene ISCU BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy with defiency of succinate dehydrogenase False 1 0;0;0 0.278 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISL1 gene ISL1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes, type 2 False 1 0;0;0 0.278 False ENSG00000016082 ENSG00000016082 HGNC:6132 ITGA6 gene ITGA6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis False 1 0;0;0 0.278 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGA7 gene ITGA7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy with integrin deficiency False 1 0;0;0 0.278 False ENSG00000135424 ENSG00000135424 HGNC:6143 JPH2 gene JPH2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000149596 ENSG00000149596 HGNC:14202 KCND3 gene KCND3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE3 gene KCNE3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 0.278 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNJ18 gene KCNJ18 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalaemic periodic paralysis False 1 0;0;0 0.278 False - ENSG00000260458 HGNC:39080 KCNJ5 gene KCNJ5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 0.278 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sudden infant death syndrom False 1 0;0;0 0.278 False ENSG00000121361 ENSG00000121361 HGNC:6269 KCNQ1OT1 gene KCNQ1OT1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Beckwith-Wiedemann syndrome False 1 0;0;0 0.278 False ENSG00000269821 ENSG00000269821 HGNC:6295 KCNQ2 gene KCNQ2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, benign neonatal False 1 0;0;0 0.278 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, benign neonatal False 1 0;0;0 0.278 False ENSG00000184156 ENSG00000184156 HGNC:6297 KDM5B gene KDM5B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000117139 ENSG00000117139 HGNC:18039 KIF1B gene KIF1B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 1 0;0;0 0.278 False ENSG00000054523 ENSG00000054523 HGNC:16636 KIF1BP gene KIF1BP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome False 1 0;0;0 0.278 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF22 gene KIF22 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia with joint laxity, type 2 False 1 0;0;0 0.278 False ENSG00000079616 ENSG00000079616 HGNC:6391 KPTN gene KPTN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Macrocephaly, neurodevelopmental delay, and seizures False 1 0;0;0 0.278 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRT18 gene KRT18 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cirrhosis, cryptogenic False 1 0;0;0 0.278 False ENSG00000111057 ENSG00000111057 HGNC:6430 KRT6B gene KRT6B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita False 1 0;0;0 0.278 False ENSG00000185479 ENSG00000185479 HGNC:6444 KRT8 gene KRT8 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cirrhosis, cryptogenic False 1 0;0;0 0.278 False ENSG00000170421 ENSG00000170421 HGNC:6446 LAMA4 gene LAMA4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000112769 ENSG00000112769 HGNC:6484 LARS gene LARS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome False 1 0;0;0 0.278 False ENSG00000133706 ENSG00000133706 HGNC:6512 LBR gene LBR BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pelger-Huet anomaly;Reynolds syndrome False 1 0;0;0 0.278 False ENSG00000143815 ENSG00000143815 HGNC:6518 LDB3 gene LDB3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 0.278 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI1 gene LGI1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial temporal lobe, 1 False 1 0;0;0 0.278 False ENSG00000108231 ENSG00000108231 HGNC:6572 LHB gene LHB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypogonadism False 1 0;0;0 0.278 False ENSG00000104826 ENSG00000104826 HGNC:6584 LMNB2 gene LMNB2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, partial False 1 0;0;0 0.278 False ENSG00000176619 ENSG00000176619 HGNC:6638 LPIN2 gene LPIN2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Majeed syndrome False 1 0;0;0 0.278 False ENSG00000101577 ENSG00000101577 HGNC:14450 LPP gene LPP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 0.278 False ENSG00000145012 ENSG00000145012 HGNC:6679 LRRK2 gene LRRK2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease False 1 0;0;0 0.278 False ENSG00000188906 ENSG00000188906 HGNC:18618 LUM gene LUM BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 0.278 False ENSG00000139329 ENSG00000139329 HGNC:6724 LYZ gene LYZ BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, systemic False 1 0;0;0 0.278 False ENSG00000090382 ENSG00000090382 HGNC:6740 MAPK10 gene MAPK10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy False 1 0;0;0 0.278 False ENSG00000109339 ENSG00000109339 HGNC:6872 MAPT gene MAPT BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, frontotemporal, with or without parkinsonism False 1 0;0;0 0.278 False ENSG00000186868 ENSG00000186868 HGNC:6893 MAT1A gene MAT1A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methionine adenosyltransferase deficiency False 1 0;0;0 0.278 False ENSG00000151224 ENSG00000151224 HGNC:6903 MATN4 gene MATN4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Multiple anomalies False 1 0;0;0 0.278 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCCC2 gene MCCC2 BabySeq Category B gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency False 1 0;0;100 0.278 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency False 1 0;0;0 0.278 False ENSG00000124370 ENSG00000124370 HGNC:16732 MED13L gene MED13L BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Transposition of great arteries False 1 0;0;0 0.278 False ENSG00000123066 ENSG00000123066 HGNC:22962 MED20 gene MED20 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000124641 ENSG00000124641 HGNC:16840 MESP2 gene MESP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis, autosomal recessive 2 False 1 0;0;0 0.278 False ENSG00000188095 ENSG00000188095 HGNC:29659 MIB1 gene MIB1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction False 1 0;0;0 0.278 False ENSG00000101752 ENSG00000101752 HGNC:21086 MIR96 gene MIR96 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss False 1 0;0;0 0.278 False ENSG00000199158 ENSG00000199158 HGNC:31648 MLH1 gene MLH1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 0.278 False ENSG00000076242 ENSG00000076242 HGNC:7127 MLPH gene MLPH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome type 3 False 1 0;0;0 0.278 False ENSG00000115648 ENSG00000115648 HGNC:29643 MOGS gene MOGS BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glucosidase 1 deficiency False 1 0;0;0 0.278 False ENSG00000115275 ENSG00000115275 HGNC:24862 MRPS16 gene MRPS16 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain disorder False 1 0;0;0 0.278 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS22 gene MRPS22 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain disorder False 1 0;0;0 0.278 False ENSG00000175110 ENSG00000175110 HGNC:14508 MSH2 gene MSH2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 0.278 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 0.278 False ENSG00000116062 ENSG00000116062 HGNC:7329 MSRB3 gene MSRB3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 100;0;0 0.278 False ENSG00000174099 ENSG00000174099 HGNC:27375 MT-ND1 gene MT-ND1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 0.278 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 0.278 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND6 gene MT-ND6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 0.278 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy & lactic acidosis False 1 0;0;0 0.278 False ENSG00000135297 ENSG00000135297 HGNC:19261 MUC5B gene MUC5B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic False 1 0;0;0 0.278 False ENSG00000117983 ENSG00000117983 HGNC:7516 MYBPC3 gene MYBPC3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Atrial septal defect;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYLK2 gene MYLK2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYO1C gene MYO1C BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 1 0;0;0 0.278 False ENSG00000197879 ENSG00000197879 HGNC:7597 MYO1E gene MYO1E BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Focal segmental glomerulosclerosis False 1 0;0;0 0.278 False ENSG00000157483 ENSG00000157483 HGNC:7599 MYO1F gene MYO1F BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 1 0;0;0 0.278 False ENSG00000142347 ENSG00000142347 HGNC:7600 MYO5A gene MYO5A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome False 1 0;0;0 0.278 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYOM1 gene MYOM1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOT gene MYOT BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 0.278 False ENSG00000120729 ENSG00000120729 HGNC:12399 MYOZ2 gene MYOZ2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000138347 ENSG00000138347 HGNC:23246 NAA10 gene NAA10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females N-terminal acetyltransferase deficiency False 1 0;0;0 0.278 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000164134 ENSG00000164134 HGNC:30782 NCF4 gene NCF4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease False 1 0;0;0 0.278 False ENSG00000100365 ENSG00000100365 HGNC:7662 NEBL gene NEBL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000078114 ENSG00000078114 HGNC:16932 NECTIN1 gene NECTIN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cleft lip / palate False 1 0;0;0 0.278 False ENSG00000110400 ENSG00000110400 HGNC:9706 NEDD4L gene NEDD4L BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, photosensitive generalised False 1 0;0;0 0.278 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEXN gene NEXN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000162614 ENSG00000162614 HGNC:29557 NFATC1 gene NFATC1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital heart disease False 1 0;0;0 0.278 False ENSG00000131196 ENSG00000131196 HGNC:7775 NHP2 gene NHP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita False 1 0;0;0 0.278 False ENSG00000145912 ENSG00000145912 HGNC:14377 NIN gene NIN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome False 1 0;0;0 0.278 False ENSG00000100503 ENSG00000100503 HGNC:14906 NKX3-2 gene NKX3-2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia False 1 0;0;0 0.278 False ENSG00000109705 ENSG00000109705 HGNC:951 NLGN3 gene NLGN3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Autism False 1 0;0;0 0.278 False ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Autism False 1 0;0;0 0.278 False ENSG00000146938 ENSG00000146938 HGNC:14287 NLRP7 gene NLRP7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hydatidiform mole False 1 0;0;0 0.278 False ENSG00000167634 ENSG00000167634 HGNC:22947 NME8 gene NME8 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary False 1 0;0;0 0.278 False ENSG00000086288 ENSG00000086288 HGNC:16473 NOP10 gene NOP10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita False 1 0;0;0 0.278 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOTCH1 gene NOTCH1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease False 1 0;0;0 0.278 False ENSG00000148400 ENSG00000148400 HGNC:7881 NPPA gene NPPA BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 0.278 False ENSG00000175206 ENSG00000175206 HGNC:7939 NR1H4 gene NR1H4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, infantile False 1 0;0;0 0.278 False ENSG00000012504 ENSG00000012504 HGNC:7967 NRG1 gene NRG1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease False 1 0;0;0 0.278 False ENSG00000157168 ENSG00000157168 HGNC:7997 NRXN1 gene NRXN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening Unknown Autism False 1 0;0;0 0.278 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSDHL gene NSDHL BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females CHILD syndrome;CK syndrome False 1 0;0;0 0.278 False ENSG00000147383 ENSG00000147383 HGNC:13398 NUB1 gene NUB1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000013374 ENSG00000013374 HGNC:17623 NUP155 gene NUP155 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Atrial fibrillation False 1 0;0;0 0.278 False ENSG00000113569 ENSG00000113569 HGNC:8063 NUP62 gene NUP62 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile False 1 0;0;0 0.278 False ENSG00000213024 ENSG00000213024 HGNC:8066 OPA3 gene OPA3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 with cataract;3-methylglutaconic aciduria, type III False 1 0;0;0 0.278 False ENSG00000125741 ENSG00000125741 HGNC:8142 ORC4 gene ORC4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 1 0;0;0 0.278 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 1 0;0;0 0.278 False ENSG00000091651 ENSG00000091651 HGNC:17151 OTOG gene OTOG BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 100;0;0 0.278 False ENSG00000188162 ENSG00000188162 HGNC:8516 OTUD4 gene OTUD4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism, ataxia & dementia False 1 0;0;0 0.278 False ENSG00000164164 ENSG00000164164 HGNC:24949 P2RX2 gene P2RX2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss False 1 0;0;0 0.278 False ENSG00000187848 ENSG00000187848 HGNC:15459 PABPN1 gene PABPN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy False 1 0;0;0 0.278 False ENSG00000100836 ENSG00000100836 HGNC:8565 PDE11A gene PDE11A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adrenocortical hyperplasia False 1 0;0;0 0.278 False ENSG00000128655 ENSG00000128655 HGNC:8773 PDLIM3 gene PDLIM3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000154553 ENSG00000154553 HGNC:20767 PDP1 gene PDP1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency False 1 0;0;0 0.278 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal False 1 0;0;0 0.278 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leigh syndrome with nephropathy and COQ10 deficiency False 1 0;0;0 0.278 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEX11B gene PEX11B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder False 1 0;0;0 0.278 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX14 gene PEX14 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 0.278 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 0.278 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 0.278 False ENSG00000162735 ENSG00000162735 HGNC:9713 PHKA1 gene PHKA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphorylase kinase deficiency False 1 0;0;0 0.278 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHOX2A gene PHOX2A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital False 1 0;0;0 0.278 False ENSG00000165462 ENSG00000165462 HGNC:691 PLN gene PLN BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLOD2 gene PLOD2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bruck syndrome False 1 0;0;0 0.278 False ENSG00000152952 ENSG00000152952 HGNC:9082 PMS2 gene PMS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 0.278 False ENSG00000122512 ENSG00000122512 HGNC:9122 PNPLA1 gene PNPLA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, autosomal recessive congenital False 1 0;0;0 0.278 False ENSG00000180316 ENSG00000180316 HGNC:21246 PODXL gene PODXL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal and segmental glomerulosclerosis False 1 0;0;0 0.278 False ENSG00000128567 ENSG00000128567 HGNC:9171 POMC gene POMC BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Proopiomelanocortin deficiency False 1 0;0;0 0.278 False ENSG00000115138 ENSG00000115138 HGNC:9201 PPOX gene PPOX BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria variegata False 1 0;0;0 0.278 False ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM16 gene PRDM16 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction False 1 0;0;0 0.278 False ENSG00000142611 ENSG00000142611 HGNC:14000 PREPL gene PREPL BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypotonia - cystinuria syndrome False 1 0;0;0 0.278 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRICKLE1 gene PRICKLE1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B False 1 0;0;0 0.278 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKAG2 gene PRKAG2 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glycogen storage disease of heart, lethal congenital;Wolff-Parkinson-White syndrome;Cardiomyopathy, hypertrophic False 1 0;0;0 0.278 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKCSH gene PRKCSH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease False 1 0;0;0 0.278 False ENSG00000130175 ENSG00000130175 HGNC:9411 PRODH gene PRODH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I False 1 0;0;0 0.278 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRPS1 gene PRPS1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome;Charcot-Marie-Tooth disease False 1 100;0;0 0.278 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRX1 gene PRRX1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agnathia-otocephaly complex False 1 0;0;0 0.278 False ENSG00000116132 ENSG00000116132 HGNC:9142 PSAT1 gene PSAT1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency False 1 0;0;0 0.278 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 3 False 1 0;0;0 0.278 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 4 False 1 0;0;0 0.278 False ENSG00000143801 ENSG00000143801 HGNC:9509 RAB10 gene RAB10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000084733 ENSG00000084733 HGNC:9759 RAD51B gene RAD51B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast and/or ovarian cancer False 1 0;0;0 0.278 False ENSG00000182185 ENSG00000182185 HGNC:9822 RANGRF gene RANGRF BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000108961 ENSG00000108961 HGNC:17679 RELN gene RELN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly syndrome False 1 0;0;0 0.278 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFX6 gene RFX6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Diabetes, neonatal, with intestinal atresia False 1 0;0;0 0.278 False ENSG00000185002 ENSG00000185002 HGNC:21478 RHAG gene RHAG BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Rh-deficiency syndrome False 1 0;0;0 0.278 False ENSG00000112077 ENSG00000112077 HGNC:10006 RPL35A gene RPL35A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 1 0;0;0 0.278 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPS10 gene RPS10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 1 0;0;0 0.278 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS7 gene RPS7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 1 0;0;0 0.278 False ENSG00000171863 ENSG00000171863 HGNC:10440 SC5D gene SC5D BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lathosterolosis False 1 0;0;0 0.278 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCN1B gene SCN1B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 0.278 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 0.278 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4A gene SCN4A BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2 False 1 0;0;0 0.278 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN4B gene SCN4B BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 0.278 False ENSG00000177098 ENSG00000177098 HGNC:10592 SCNN1G gene SCNN1G BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism False 1 0;0;0 0.278 False ENSG00000166828 ENSG00000166828 HGNC:10602 SCO1 gene SCO1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hepatic failure, early onset, and neurologic disorder False 1 0;0;0 0.278 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCP2 gene SCP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy - dystonia - motor neuropathy False 1 0;0;0 0.278 False ENSG00000116171 ENSG00000116171 HGNC:10606 SEC63 gene SEC63 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease False 1 0;0;0 0.278 False ENSG00000025796 ENSG00000025796 HGNC:21082 SEMA3A gene SEMA3A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kallmann syndrome 1 False 1 0;0;0 0.278 False ENSG00000075213 ENSG00000075213 HGNC:10723 SERPINB6 gene SERPINB6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 0;0;0 0.278 False ENSG00000124570 ENSG00000124570 HGNC:8950 SERPINC1 gene SERPINC1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombophilia due to antithrombin III deficiency False 1 0;0;0 0.278 False ENSG00000117601 ENSG00000117601 HGNC:775 SERPIND1 gene SERPIND1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heparin cofactor 2 deficiency False 1 0;0;0 0.278 False ENSG00000099937 ENSG00000099937 HGNC:4838 SFTPA2 gene SFTPA2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic False 1 0;0;0 0.278 False ENSG00000185303 ENSG00000185303 HGNC:10799 SH3BP2 gene SH3BP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism False 1 0;0;0 0.278 False ENSG00000087266 ENSG00000087266 HGNC:10825 SHOC2 gene SHOC2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair False 1 0;0;0 0.278 False ENSG00000108061 ENSG00000108061 HGNC:15454 SIX2 gene SIX2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia False 1 0;0;0 0.278 False ENSG00000170577 ENSG00000170577 HGNC:10888 SIX5 gene SIX5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome False 1 0;0;0 0.278 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC11A2 gene SLC11A2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic False 1 0;0;0 0.278 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC12A5 gene SLC12A5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Febrile seizures False 1 0;0;0 0.278 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC16A1 gene SLC16A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monocarboxylate transporter 1 deficiency False 1 0;0;0 0.278 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A12 gene SLC16A12 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract, juvenile with microcornea and renal glucosuria False 1 0;0;0 0.278 False ENSG00000152779 ENSG00000152779 HGNC:23094 SLC25A12 gene SLC25A12 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypomyelination, global cerebral False 1 0;0;0 0.278 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A22 gene SLC25A22 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Early myoclonic encephalopathy False 1 0;0;0 0.278 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC27A5 gene SLC27A5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bile acid amidation defect False 1 0;0;0 0.278 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC33A1 gene SLC33A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital cataracts, hearing loss and low serum copper and ceruloplasmin;Spastic paraplegia, autosomal dominant False 1 0;0;0 0.278 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A1 gene SLC35A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal CDG syndrome type IIf False 1 0;0;0 0.278 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Early-onset epileptic encephalopathy False 1 0;0;0 0.278 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 2c False 1 0;0;0 0.278 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC41A1 gene SLC41A1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 2, MIM# 619468 23661805 False 1 0;0;100 0.278 True ENSG00000133065 ENSG00000133065 HGNC:19429 SLC4A10 gene SLC4A10 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy & mental retardation False 1 0;0;0 0.278 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC4A4 gene SLC4A4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities False 1 0;0;0 0.278 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC6A2 gene SLC6A2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orthostatic intolerance False 1 0;0;0 0.278 False ENSG00000103546 ENSG00000103546 HGNC:11048 SLC9A3R1 gene SLC9A3R1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2 False 1 0;0;0 0.278 False ENSG00000109062 ENSG00000109062 HGNC:11075 SLCO1B1 gene SLCO1B1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic False 1 0;0;0 0.278 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic False 1 0;0;0 0.278 False ENSG00000111700 ENSG00000111700 HGNC:10961 SMAD1 gene SMAD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension False 1 0;0;0 0.278 False ENSG00000170365 ENSG00000170365 HGNC:6767 SMAD6 gene SMAD6 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiovascular malformation, congenital False 1 0;0;0 0.278 False ENSG00000137834 ENSG00000137834 HGNC:6772 SMAD9 gene SMAD9 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension False 1 0;0;0 0.278 False ENSG00000120693 ENSG00000120693 HGNC:6774 SMO gene SMO BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medulloblastoma False 1 0;0;0 0.278 False ENSG00000128602 ENSG00000128602 HGNC:11119 SNAP29 gene SNAP29 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome False 1 0;0;0 0.278 False ENSG00000099940 ENSG00000099940 HGNC:11133 SOD1 gene SOD1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 0.278 False ENSG00000142168 ENSG00000142168 HGNC:11179 SOX18 gene SOX18 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis-lymphedema-telangiectasia syndrome False 1 0;0;0 0.278 False ENSG00000203883 ENSG00000203883 HGNC:11194 SP7 gene SP7 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type XII False 1 0;0;0 0.278 False ENSG00000170374 ENSG00000170374 HGNC:17321 SPTLC2 gene SPTLC2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IC False 1 0;0;0 0.278 False ENSG00000100596 ENSG00000100596 HGNC:11278 ST14 gene ST14 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis hypotrichosis syndrome False 1 0;0;0 0.278 False ENSG00000149418 ENSG00000149418 HGNC:11344 ST3GAL5 gene ST3GAL5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Amish infantile epilepsy syndrome False 1 0;0;0 0.278 False ENSG00000115525 ENSG00000115525 HGNC:10872 SYNE4 gene SYNE4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss False 1 0;0;0 0.278 False ENSG00000181392 ENSG00000181392 HGNC:26703 SYT14 gene SYT14 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11 False 1 0;0;0 0.278 False ENSG00000143469 ENSG00000143469 HGNC:23143 TAB2 gene TAB2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, nonsyndromic False 1 0;0;0 0.278 False ENSG00000055208 ENSG00000055208 HGNC:17075 TARDBP gene TARDBP BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis type 10 False 1 0;0;0 0.278 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBCE gene TBCE BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism retardation dysmorphism syndrome False 1 0;0;0 0.278 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX20 gene TBX20 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 0.278 False ENSG00000164532 ENSG00000164532 HGNC:11598 TCAP gene TCAP BabySeq Category A gene;BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated;Muscular dystrophy, limb-girdle, type 2G False 1 0;0;0 0.278 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCTN1 gene TCTN1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 0.278 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 0.278 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFR2 gene TFR2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis type 3 False 1 0;0;0 0.278 False ENSG00000106327 ENSG00000106327 HGNC:11762 TGFB1 gene TGFB1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Camurati-Engelmann disease False 1 0;0;0 0.278 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB3 gene TGFB3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia False 1 0;0;0 0.278 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGIF1 gene TGIF1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-4 False 1 0;0;0 0.278 False ENSG00000177426 ENSG00000177426 HGNC:11776 THBD gene THBD BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uraemic syndrome False 1 0;0;0 0.278 False ENSG00000178726 ENSG00000178726 HGNC:11784 THBS1 gene THBS1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension False 1 0;0;0 0.278 False ENSG00000137801 ENSG00000137801 HGNC:11785 TJP2 gene TJP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial False 1 0;0;0 0.278 False ENSG00000119139 ENSG00000119139 HGNC:11828 TMC8 gene TMC8 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformi False 1 0;0;0 0.278 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEM216 gene TMEM216 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome False 1 0;0;0 0.278 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM237 gene TMEM237 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 0.278 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMPO gene TMPO BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 0.278 False ENSG00000120802 ENSG00000120802 HGNC:11875 TNXB gene TNXB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome due to tenascin X deficiency False 1 0;0;0 0.278 False ENSG00000168477 ENSG00000168477 HGNC:11976 TPRN gene TPRN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 0;0;0 0.278 False ENSG00000176058 ENSG00000176058 HGNC:26894 TRDN gene TRDN BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Catecholaminergic polymorphic ventricular tachycardia False 1 0;0;0 0.278 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRH gene TRH BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyrotropin-releasing hormone deficiency False 1 0;0;0 0.278 False ENSG00000170893 ENSG00000170893 HGNC:12298 TRHR gene TRHR BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyrotropin-releasing hormone resistance, generalized False 1 0;0;0 0.278 False ENSG00000174417 ENSG00000174417 HGNC:12299 TRIP11 gene TRIP11 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis type 1A False 1 0;0;0 0.278 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRPM2 gene TRPM2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ALS and Parkinson's disease False 1 0;0;0 0.278 False ENSG00000142185 ENSG00000142185 HGNC:12339 TSFM gene TSFM BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency False 1 0;0;0 0.278 False ENSG00000123297 ENSG00000123297 HGNC:12367 TSPEAR gene TSPEAR BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural deafness False 1 0;0;0 0.278 False ENSG00000175894 ENSG00000175894 HGNC:1268 TSPYL1 gene TSPYL1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome False 1 0;0;0 0.278 False ENSG00000189241 ENSG00000189241 HGNC:12382 TUBA8 gene TUBA8 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia False 1 0;0;0 0.278 False ENSG00000183785 ENSG00000183785 HGNC:12410 UBA1 gene UBA1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked infantile False 1 0;0;0 0.278 False ENSG00000130985 ENSG00000130985 HGNC:12469 UCP2 gene UCP2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism False 1 0;0;0 0.278 False ENSG00000175567 ENSG00000175567 HGNC:12518 UGT1A4 gene UGT1A4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome False 1 0;0;0 0.278 False ENSG00000244474 ENSG00000244474 HGNC:12536 UGT1A5 gene UGT1A5 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal UDP glucuronosyltransferase deficiency False 1 0;0;0 0.278 False ENSG00000240224 ENSG00000240224 HGNC:12537 UQCRB gene UQCRB BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency False 1 0;0;0 0.278 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency False 1 0;0;0 0.278 False ENSG00000164405 ENSG00000164405 HGNC:29594 UTP4 gene UTP4 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal North American Indian childhood cirrhosis False 1 0;0;0 0.278 False ENSG00000141076 ENSG00000141076 HGNC:1983 VAMP1 gene VAMP1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia False 1 0;0;0 0.278 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS53 gene VPS53 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Progressive cerebello-cerebral atrophy False 1 0;0;0 0.278 False ENSG00000141252 ENSG00000141252 HGNC:25608 VSX1 gene VSX1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus False 1 0;0;0 0.278 False ENSG00000100987 ENSG00000100987 HGNC:12723 WDR19 gene WDR19 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis False 1 0;0;0 0.278 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 0.278 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR36 gene WDR36 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma False 1 0;0;0 0.278 False ENSG00000134987 ENSG00000134987 HGNC:30696 WNK1 gene WNK1 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type I False 1 0;0;0 0.278 False ENSG00000060237 ENSG00000060237 HGNC:14540 WNT3 gene WNT3 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tetra-amelia, autosomal recessive False 1 0;0;0 0.278 False ENSG00000108379 ENSG00000108379 HGNC:12782 WNT5A gene WNT5A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome False 1 0;0;0 0.278 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ulna and fibula absence of with severe limb deficiency False 1 0;0;0 0.278 False ENSG00000154764 ENSG00000154764 HGNC:12786 YARS2 gene YARS2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia False 1 0;0;0 0.278 False ENSG00000139131 ENSG00000139131 HGNC:24249 ZFPM2 gene ZFPM2 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 0.278 False ENSG00000169946 ENSG00000169946 HGNC:16700 ZNF252P gene ZNF252P BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism False 1 0;0;0 0.278 False ENSG00000196922 ENSG00000196922 HGNC:13046 ZNF674 gene ZNF674 BabySeq Category C gene;Expert Review Red Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation False 1 0;0;0 0.278 False ENSG00000251192 ENSG00000251192 HGNC:17625