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 AAAS gene AAAS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome False 3 0;0;0 0.278 False ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCA12 gene ABCA12 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive False 3 0;0;0 0.278 False ENSG00000144452 ENSG00000144452 HGNC:14637 ABCA3 gene ABCA3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3 False 3 0;0;0 0.278 False ENSG00000167972 ENSG00000167972 HGNC:33 ABCA4 gene ABCA4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Stargardt disease False 3 0;0;0 0.278 False ENSG00000198691 ENSG00000198691 HGNC:34 ABCB11 gene ABCB11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2 False 3 0;0;0 0.278 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 False 3 0;0;0 0.278 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, MIM# 237500 30344695;11477083 False 3 100;0;0 0.278 True ENSG00000023839 ENSG00000023839 HGNC:53 ABCC6 gene ABCC6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum False 3 0;0;0 0.278 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial False 3 0;0;0 0.278 False ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy False 3 0;0;0 0.278 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCG5 gene ABCG5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sitosterolemia False 3 0;0;0 0.278 False ENSG00000138075 ENSG00000138075 HGNC:13886 ACAD8 gene ACAD8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Isobutyryl-CoA dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal ACAD9 deficiency False 3 0;0;0 0.278 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Medium chain acyl CoA dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency False 3 0;0;0 0.278 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria False 3 0;0;0 0.278 False ENSG00000075239 ENSG00000075239 HGNC:93 ACE gene ACE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 3 0;0;0 0.278 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACOX1 gene ACOX1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency False 3 0;0;0 0.278 False ENSG00000161533 ENSG00000161533 HGNC:119 ACTG1 gene ACTG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant;Baraitser-Winter syndrome False 3 0;0;0 0.278 False ENSG00000184009 ENSG00000184009 HGNC:144 ACTG2 gene ACTG2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megacystis-microcolon-intestinal hypoperistalsis syndrome False 3 0;0;0 0.278 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN1 gene ACTN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia False 3 0;0;0 0.278 False ENSG00000072110 ENSG00000072110 HGNC:163 ACTN4 gene ACTN4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1 False 3 0;0;0 0.278 False ENSG00000130402 ENSG00000130402 HGNC:166 ACVR1 gene ACVR1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva False 3 0;0;0 0.278 False ENSG00000115170 ENSG00000115170 HGNC:171 ACVRL1 gene ACVRL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 False 3 0;0;0 0.278 False ENSG00000139567 ENSG00000139567 HGNC:175 ADA gene ADA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency False 3 0;0;0 0.278 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAMTS13 gene ADAMTS13 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, familial False 3 0;0;0 0.278 False ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTSL2 gene ADAMTSL2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1 False 3 0;0;0 0.278 False ENSG00000197859 ENSG00000197859 HGNC:14631 ADAR gene ADAR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyschromatosis symmetrica hereditaria;Aicardi-Goutieres syndrome False 3 0;0;0 0.278 False ENSG00000160710 ENSG00000160710 HGNC:225 ADGRG1 gene ADGRG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal False 3 0;0;0 0.278 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRV1 gene ADGRV1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C False 3 0;0;0 0.278 True ENSG00000164199 ENSG00000164199 HGNC:17416 ADK gene ADK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency False 3 0;0;0 0.278 False ENSG00000156110 ENSG00000156110 HGNC:257 AGA gene AGA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria False 3 0;0;0 0.278 False ENSG00000038002 ENSG00000038002 HGNC:318 AGL gene AGL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa False 3 0;0;0 0.278 False ENSG00000162688 ENSG00000162688 HGNC:321 AGRN gene AGRN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myasthenia, limb-girdle, familial False 3 0;0;0 0.278 False ENSG00000188157 ENSG00000188157 HGNC:329 AGXT gene AGXT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1 False 3 0;0;0 0.278 False ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome-3 False 3 0;0;0 0.278 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cowchock syndrome False 3 0;0;0 0.278 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIRE gene AIRE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia False 3 0;0;0 0.278 False ENSG00000160224 ENSG00000160224 HGNC:360 AKR1D1 gene AKR1D1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 False 3 0;0;0 0.278 False ENSG00000122787 ENSG00000122787 HGNC:388 ALAS2 gene ALAS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, X-linked False 3 0;0;0 0.278 False ENSG00000158578 ENSG00000158578 HGNC:397 ALB gene ALB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Analbuminemia False 3 0;0;0 0.278 False ENSG00000163631 ENSG00000163631 HGNC:399 ALDH18A1 gene ALDH18A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA False 3 0;0;0 0.278 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome False 3 0;0;0 0.278 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH5A1 gene ALDH5A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Epilepsy, pyridoxine-dependent, MIM# 266100" False 3 100;0;0 0.278 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fructose intolerance False 3 0;0;0 0.278 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik False 3 0;0;0 0.278 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG12 gene ALG12 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig False 3 0;0;0 0.278 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id False 3 0;0;0 0.278 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic False 3 0;0;0 0.278 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih False 3 0;0;0 0.278 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 28932688;25966638;26453364 False 3 100;0;0 0.278 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome False 3 0;0;0 0.278 False ENSG00000116127 ENSG00000116127 HGNC:428 ALOX12B gene ALOX12B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive False 3 0;0;0 0.278 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive False 3 0;0;0 0.278 False ENSG00000179148 ENSG00000179148 HGNC:13743 ALPL gene ALPL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia False 3 0;0;0 0.278 False ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis False 3 0;0;0 0.278 False ENSG00000003393 ENSG00000003393 HGNC:443 ALX4 gene ALX4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parietal foramina 2 False 3 0;0;0 0.278 False ENSG00000052850 ENSG00000052850 HGNC:450 AMELX gene AMELX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Amelogenesis imperfecta False 3 0;0;0 0.278 False ENSG00000125363 ENSG00000125363 HGNC:461 AMN gene AMN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type False 3 0;0;0 0.278 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMT gene AMT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperglycinaemia, non-ketotic False 3 0;0;0 0.278 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK1 gene ANK1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spherocytosis False 3 0;0;0 0.278 False ENSG00000029534 ENSG00000029534 HGNC:492 ANK2 gene ANK2 BabySeq Category B gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038 False 3 100;0;0 0.278 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKH gene ANKH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia False 3 0;0;0 0.278 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD26 gene ANKRD26 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 2 False 3 100;0;0 0.278 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANO10 gene ANO10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10 False 3 0;0;0 0.278 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANTXR2 gene ANTXR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome False 3 0;0;0 0.278 False ENSG00000163297 ENSG00000163297 HGNC:21732 AP3B1 gene AP3B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2 False 3 0;0;0 0.278 False ENSG00000132842 ENSG00000132842 HGNC:566 AP4B1 gene AP4B1 Expert Review;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 21620353;22290197;24700674;24781758;32979048;32171285;32166732;31525725;31525725 False 3 100;0;0 0.278 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744 20972249;21620353;21937992;32979048;23472171 False 3 100;0;0 0.278 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 50, autosomal recessive, MIM# 612936" 19559397;21937992;21937992;32979048;31915823;29096665;28464862;25496299 False 3 100;0;0 0.278 True ENSG00000221838 ENSG00000221838 HGNC:574 APC gene APC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli;Adenomatous polyposis coli, attenuated False 3 0;0;0 0.278 False ENSG00000134982 ENSG00000134982 HGNC:583 APOB gene APOB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolaemia, familial, 2, MIM# 144010;Hypobetalipoproteinaemia 615558 False 3 100;0;0 0.278 True ENSG00000084674 ENSG00000084674 HGNC:603 APRT gene APRT BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Adenine phosphoribosyltransferase deficiency, MIM# 614723" False 3 100;0;0 0.278 True ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia False 3 0;0;0 0.278 False ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Androgen insensitivity, MIM# 300068 False 3 100;0;0 0.278 True ENSG00000169083 ENSG00000169083 HGNC:644 ARFGEF2 gene ARFGEF2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly False 3 0;0;0 0.278 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Arginase deficiency False 3 0;0;0 0.278 False ENSG00000118520 ENSG00000118520 HGNC:663 ARID1B gene ARID1B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome False 3 0;0;0 0.278 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARMC4 gene ARMC4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000169126 ENSG00000169126 HGNC:25583 ARSA gene ARSA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy False 3 0;0;0 0.278 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy) False 3 0;0;0 0.278 False ENSG00000113273 ENSG00000113273 HGNC:714 ARX gene ARX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked 2 False 3 0;0;0 0.278 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASL gene ASL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria False 3 0;0;0 0.278 False ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Canavan disease False 3 0;0;0 0.278 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia False 3 0;0;0 0.278 False ENSG00000130707 ENSG00000130707 HGNC:758 ATM gene ATM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia False 3 0;0;0 0.278 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A2 gene ATP1A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemiplegic migraine False 3 0;0;0 0.278 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP2A1 gene ATP2A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Brody myopathy False 3 0;0;0 0.278 False ENSG00000196296 ENSG00000196296 HGNC:811 ATP2B2 gene ATP2B2 Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, childhood onset False 3 100;0;0 0.278 True ENSG00000157087 ENSG00000157087 HGNC:815 ATP6V0A2 gene ATP6V0A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA False 3 0;0;0 0.278 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1B1 gene ATP6V1B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis & hearing loss False 3 0;0;0 0.278 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP7A gene ATP7A BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM# 309400 False 3 100;0;0 0.278 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Wilson disease False 3 0;0;0 0.278 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 False 3 0;0;0 0.278 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATRX gene ATRX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980 False 3 0;0;0 0.278 False ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I False 3 0;0;0 0.278 False ENSG00000148090 ENSG00000148090 HGNC:890 AVPR2 gene AVPR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic False 3 0;0;0 0.278 False ENSG00000126895 ENSG00000126895 HGNC:897 B3GLCT gene B3GLCT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Peters-Plus syndrome False 3 0;0;0 0.278 False ENSG00000187676 ENSG00000187676 HGNC:20207 BAAT gene BAAT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bile acid amidation defect False 3 0;0;0 0.278 False ENSG00000136881 ENSG00000136881 HGNC:932 BBS1 gene BBS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCHE gene BCHE Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Butyrylcholinesterase deficiency, MIM# 617936" False 3 100;0;0 0.278 True ENSG00000114200 ENSG00000114200 HGNC:983 BCKDHA gene BCKDHA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease False 3 0;0;0 0.278 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease False 3 0;0;0 0.278 False ENSG00000083123 ENSG00000083123 HGNC:987 BCS1L gene BCS1L BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Complex 3 deficiency False 3 0;0;0 0.278 False ENSG00000074582 ENSG00000074582 HGNC:1020 BICD2 gene BICD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital spinal muscular atrophy False 3 0;0;0 0.278 False ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, centronuclear, autosomal recessive False 3 0;0;0 0.278 False ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bloom syndrome False 3 0;0;0 0.278 False ENSG00000197299 ENSG00000197299 HGNC:1058 BMPR1A gene BMPR1A BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, MIM# 174900 False 3 100;0;0 0.278 True ENSG00000107779 ENSG00000107779 HGNC:1076 BRAF gene BRAF BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 7, MIM# 613706;Cardiofaciocutaneous syndrome, MIM# 115150 False 3 100;0;0 0.278 True ENSG00000157764 ENSG00000157764 HGNC:1097 BSCL2 gene BSCL2 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Berardinelli-Seip lipodystrophy;Lipodystrophy, congenital generalized, type 2, MIM# 269700 False 3 100;0;0 0.278 True ENSG00000168000 ENSG00000168000 HGNC:15832 BSND gene BSND BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome with sensorineural deafness False 3 0;0;0 0.278 False ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency False 3 0;0;0 0.278 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTK gene BTK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia, X-linked 1 False 3 0;0;0 0.278 False ENSG00000010671 ENSG00000010671 HGNC:1133 CA2 gene CA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis False 3 0;0;0 0.278 False ENSG00000104267 ENSG00000104267 HGNC:1373 CABP2 gene CABP2 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, MIM# 614899 False 3 0;0;0 0.278 True ENSG00000167791 ENSG00000167791 HGNC:1385 CACNA1A gene CACNA1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2 False 3 0;0;0 0.278 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1F gene CACNA1F BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked False 3 0;0;0 0.278 False ENSG00000102001 ENSG00000102001 HGNC:1393 CAPN3 gene CAPN3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2A False 3 0;0;0 0.278 False ENSG00000092529 ENSG00000092529 HGNC:1480 CARD11 gene CARD11 Expert list;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Immunodeficiency 11A, MIM# 615206" 23561803;12818158;23374270;28628108 False 3 100;0;0 0.278 True ENSG00000198286 ENSG00000198286 HGNC:16393 CASK gene CASK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation and microcephaly with pontine and cerebellar hypoplasia False 3 0;0;0 0.278 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASQ2 gene CASQ2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic False 3 0;0;0 0.278 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, limb-girdle, type IC;Caveolinopathy False 3 100;0;0 0.278 True ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN1 gene CAVIN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 False 3 0;0;0 0.278 False ENSG00000177469 ENSG00000177469 HGNC:9688 CBL gene CBL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia False 3 0;0;0 0.278 False ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 0.278 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D2A gene CC2D2A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 3 0;0;0 0.278 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC39 gene CCDC39 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000141519 ENSG00000141519 HGNC:26090 CD3D gene CD3D Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 19, MIM# 615617" False 3 100;0;0 0.278 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD40LG gene CD40LG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM False 3 0;0;0 0.278 False ENSG00000102245 ENSG00000102245 HGNC:11935 CDAN1 gene CDAN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Anemia, congenital dyserythropoietic, type I False 3 0;0;0 0.278 False ENSG00000140326 ENSG00000140326 HGNC:1713 CDC14A gene CDC14A Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 False 3 100;0;0 0.278 True ENSG00000079335 ENSG00000079335 HGNC:1718 CDH23 gene CDH23 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D;Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDK5RAP2 gene CDK5RAP2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 False 3 100;0;0 0.278 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDKL5 gene CDKL5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 2 False 3 0;0;0 0.278 False ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN1C gene CDKN1C BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Beckwith-Wiedemann syndrome False 3 0;0;0 0.278 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDSN gene CDSN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis False 3 0;0;0 0.278 False ENSG00000204539 ENSG00000204539 HGNC:1802 CDT1 gene CDT1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM# 613804;MONDO:0013431 21358632;21358631;33338304;22333897 False 3 100;0;0 0.278 True ENSG00000167513 ENSG00000167513 HGNC:24576 CEP152 gene CEP152 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome False 3 0;0;0 0.278 False ENSG00000103995 ENSG00000103995 HGNC:29298 CEP290 gene CEP290 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 3 0;0;0 0.278 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP78 gene CEP78 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss False 3 100;0;0 0.278 True ENSG00000148019 ENSG00000148019 HGNC:25740 CEP83 gene CEP83 Expert Review;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID 24882706;33938610 False 3 100;0;0 0.278 True ENSG00000173588 ENSG00000173588 HGNC:17966 CFC1 gene CFC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 3 0;0;0 0.278 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFL2 gene CFL2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000165410 ENSG00000165410 HGNC:1875 CFP gene CFP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked False 3 0;0;0 0.278 False ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis False 3 0;0;0 0.278 False ENSG00000001626 ENSG00000001626 HGNC:1884 CHAT gene CHAT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHD2 gene CHD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, intellectual disability, epilepsy False 3 0;0;0 0.278 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD7 gene CHD7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome False 3 0;0;0 0.278 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHKB gene CHKB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type False 3 0;0;0 0.278 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHM gene CHM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Choroideremia False 3 0;0;0 0.278 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHRNA1 gene CHRNA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRND gene CHRND BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pterygium syndrome False 3 0;0;0 0.278 False ENSG00000196811 ENSG00000196811 HGNC:1967 CIB2 gene CIB2 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 48, MIM# 609439 23023331;23023331;26173970;26473954;27344577;26226137;26445815 False 3 100;0;0 0.278 True ENSG00000136425 ENSG00000136425 HGNC:24579 CLCN5 gene CLCN5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease False 3 0;0;0 0.278 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, MIM# 611490 False 3 100;0;0 0.278 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLDN14 gene CLDN14 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss, non-syndromic, autosomal recessive False 3 0;0;0 0.278 False ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN19 gene CLDN19 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement False 3 0;0;0 0.278 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLN3 gene CLN3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 False 3 0;0;0 0.278 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 False 3 0;0;0 0.278 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6 False 3 0;0;0 0.278 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 False 3 0;0;0 0.278 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPP gene CLPP BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 23541340;27087618;27899912;25254289 False 3 100;0;0 0.278 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A False 3 0;0;0 0.278 False ENSG00000163646 ENSG00000163646 HGNC:12605 CNGB3 gene CNGB3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia-3 False 3 0;0;0 0.278 False ENSG00000170289 ENSG00000170289 HGNC:2153 COCH gene COCH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 9, MIM# 601369;Deafness, autosomal recessive 110, MIM# 618094 16151338;28116169;28099493;9806553;17561763;21046548;26256111;22931125;22610276;18312449;28733840;18697796;29449721;32939038;32562050 False 3 100;0;0 0.278 True ENSG00000100473 ENSG00000100473 HGNC:2180 COG5 gene COG5 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 23228021;31572517;32174980 False 3 100;0;0 0.278 True ENSG00000164597 ENSG00000164597 HGNC:14857 COL11A1 gene COL11A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome False 3 0;0;0 0.278 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otospondylomegaepiphyseal dysplasia False 3 0;0;0 0.278 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL17A1 gene COL17A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, non-Herlitz type False 3 0;0;0 0.278 False ENSG00000065618 ENSG00000065618 HGNC:2194 COL1A1 gene COL1A1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type I False 3 100;0;0 0.278 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type II False 3 0;0;0 0.278 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome False 3 0;0;0 0.278 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL3A1 gene COL3A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, type IV False 3 0;0;0 0.278 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A3 gene COL4A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alport syndrome False 3 0;0;0 0.278 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome False 3 0;0;0 0.278 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Alport syndrome False 3 0;0;0 0.278 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL5A1 gene COL5A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, type I False 3 0;0;0 0.278 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome False 3 0;0;0 0.278 False ENSG00000204262 ENSG00000204262 HGNC:2210 COL6A1 gene COL6A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy False 3 0;0;0 0.278 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy False 3 0;0;0 0.278 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy False 3 0;0;0 0.278 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL7A1 gene COL7A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa dystrophica False 3 0;0;0 0.278 False ENSG00000114270 ENSG00000114270 HGNC:2214 COL9A1 gene COL9A1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM#614134 False 3 100;0;0 0.278 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 False 3 100;0;0 0.278 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome False 3 100;0;0 0.278 True ENSG00000092758 ENSG00000092758 HGNC:2219 COLQ gene COLQ BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000206561 ENSG00000206561 HGNC:2226 CPS1 gene CPS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency False 3 0;0;0 0.278 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I deficiency False 3 0;0;0 0.278 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase 2 deficiency False 3 0;0;0 0.278 False ENSG00000157184 ENSG00000157184 HGNC:2330 CREBBP gene CREBBP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome False 3 0;0;0 0.278 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRLF1 gene CRLF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Crisponi syndrome False 3 0;0;0 0.278 False ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII False 3 0;0;0 0.278 False ENSG00000170275 ENSG00000170275 HGNC:2379 CSF2RA gene CSF2RA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 20622029;25425184;18955570 False 3 100;0;0 0.278 True ENSG00000198223 ENSG00000198223 HGNC:2435 CSTB gene CSTB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A False 3 0;0;0 0.278 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTC1 gene CTC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Coats plus syndrome False 3 0;0;0 0.278 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTNS gene CTNS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cystinosis False 3 0;0;0 0.278 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSD gene CTSD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10 False 3 0;0;0 0.278 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis False 3 0;0;0 0.278 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type False 3 0;0;0 0.278 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL7 gene CUL7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome False 3 0;0;0 0.278 False ENSG00000044090 ENSG00000044090 HGNC:21024 CYBA gene CYBA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease False 3 0;0;0 0.278 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease False 3 0;0;0 0.278 False ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete False 3 0;0;0 0.278 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency False 3 0;0;0 0.278 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP21A2 gene CYP21A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency False 3 0;0;0 0.278 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP27A1 gene CYP27A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis False 3 0;0;0 0.278 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27B1 gene CYP27B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I False 3 0;0;0 0.278 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP4F22 gene CYP4F22 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive False 3 0;0;0 0.278 False ENSG00000171954 ENSG00000171954 HGNC:26820 D2HGDH gene D2HGDH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria False 3 0;0;0 0.278 False ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease False 3 0;0;0 0.278 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCLRE1C gene DCLRE1C BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type False 3 0;0;0 0.278 False ENSG00000152457 ENSG00000152457 HGNC:17642 DCX gene DCX BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked, MIM# 300067 False 3 100;0;0 0.278 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDB2 gene DDB2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency False 3 0;0;0 0.278 False ENSG00000132437 ENSG00000132437 HGNC:2719 DFNA5 gene DFNA5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss False 3 0;0;0 0.278 False ENSG00000105928 ENSG00000105928 HGNC:2810 DFNB59 gene DFNB59 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss False 3 0;0;0 0.278 False ENSG00000204311 ENSG00000204311 HGNC:29502 DGUOK gene DGUOK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome False 3 0;0;0 0.278 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR7 gene DHCR7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome False 3 0;0;0 0.278 False ENSG00000172893 ENSG00000172893 HGNC:2860 DIAPH1 gene DIAPH1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 False 3 100;0;0 0.278 True ENSG00000131504 ENSG00000131504 HGNC:2876 DLD gene DLD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type III False 3 0;0;0 0.278 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLL3 gene DLL3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis, autosomal recessive, 1 False 3 0;0;0 0.278 False ENSG00000090932 ENSG00000090932 HGNC:2909 DMP1 gene DMP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR False 3 0;0;0 0.278 False ENSG00000152592 ENSG00000152592 HGNC:2932 DMPK gene DMPK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 False 3 0;0;0 0.278 False ENSG00000104936 ENSG00000104936 HGNC:2933 DMXL2 gene DMXL2 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 81, MIM#618663 False 3 100;0;0 0.278 True ENSG00000104093 ENSG00000104093 HGNC:2938 DNAAF1 gene DNAAF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAH11 gene DNAH11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAJB6 gene DNAJB6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, limb girdle False 3 0;0;0 0.278 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, centronuclear;Charcot-Marie-Tooth disease, axonal, type 2M False 3 0;0;0 0.278 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT3B gene DNMT3B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1 False 3 0;0;0 0.278 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK8 gene DOCK8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyper-IgE syndrome False 3 0;0;0 0.278 False ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 0.278 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij False 3 0;0;0 0.278 False ENSG00000172269 ENSG00000172269 HGNC:2995 DUOX2 gene DUOX2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis False 3 0;0;0 0.278 False ENSG00000140279 ENSG00000140279 HGNC:13273 DUOXA2 gene DUOXA2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, MIM# 274900 False 3 100;0;0 0.278 True ENSG00000140274 ENSG00000140274 HGNC:32698 DYSF gene DYSF BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1;Muscular dystrophy, limb-girdle, type 2B False 3 0;0;0 0.278 False ENSG00000135636 ENSG00000135636 HGNC:3097 EDA gene EDA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia, hypohidrotic False 3 0;0;0 0.278 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, hypohidrotic False 3 0;0;0 0.278 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia, hypohidrotic False 3 0;0;0 0.278 False ENSG00000186197 ENSG00000186197 HGNC:14341 EDN3 gene EDN3 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome False 3 100;0;0 0.278 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM# 277580 False 3 100;0;0 0.278 True ENSG00000136160 ENSG00000136160 HGNC:3180 EFTUD2 gene EFTUD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis with microcephaly False 3 0;0;0 0.278 False ENSG00000108883 ENSG00000108883 HGNC:30858 EGR2 gene EGR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000122877 ENSG00000122877 HGNC:3239 EIF2AK3 gene EIF2AK3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome False 3 0;0;0 0.278 False ENSG00000172071 ENSG00000172071 HGNC:3255 ELANE gene ELANE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, congenital False 3 0;0;0 0.278 False ENSG00000197561 ENSG00000197561 HGNC:3309 ELN gene ELN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Supravalvar aortic stenosis False 3 0;0;0 0.278 False ENSG00000049540 ENSG00000049540 HGNC:3327 ELP1 gene ELP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial False 3 0;0;0 0.278 False ENSG00000070061 ENSG00000070061 HGNC:5959 EMD gene EMD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscular dystrophy, Emery-Dreifuss False 3 0;0;0 0.278 False ENSG00000102119 ENSG00000102119 HGNC:3331 ENG gene ENG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1 False 3 0;0;0 0.278 False ENSG00000106991 ENSG00000106991 HGNC:3349 ENPP1 gene ENPP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1 False 3 0;0;0 0.278 False ENSG00000197594 ENSG00000197594 HGNC:3356 EPM2A gene EPM2A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora) False 3 0;0;0 0.278 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPS8 gene EPS8 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal deafness MIM#600205 False 3 100;0;0 0.278 True ENSG00000151491 ENSG00000151491 HGNC:3420 EPS8L2 gene EPS8L2 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, MIM#617637 False 3 100;0;0 0.278 True ENSG00000177106 ENSG00000177106 HGNC:21296 ERCC2 gene ERCC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC5 gene ERCC5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome False 3 0;0;0 0.278 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome False 3 0;0;0 0.278 False ENSG00000049167 ENSG00000049167 HGNC:3439 ESCO2 gene ESCO2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Roberts syndrome False 3 0;0;0 0.278 False ENSG00000171320 ENSG00000171320 HGNC:27230 ESPN gene ESPN BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 36, MIM# 609006 15286153;18973245;26445815;28281779;10975527;15930085 False 3 100;0;0 0.278 True ENSG00000187017 ENSG00000187017 HGNC:13281 ESRRB gene ESRRB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss False 3 0;0;0 0.278 False ENSG00000119715 ENSG00000119715 HGNC:3473 ETFA gene ETFA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA False 3 0;0;0 0.278 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB False 3 0;0;0 0.278 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC False 3 0;0;0 0.278 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy False 3 0;0;0 0.278 False ENSG00000105755 ENSG00000105755 HGNC:23287 EVC gene EVC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome False 3 0;0;0 0.278 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome False 3 0;0;0 0.278 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXT1 gene EXT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 1 False 3 0;0;0 0.278 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 False 3 0;0;0 0.278 False ENSG00000151348 ENSG00000151348 HGNC:3513 EYA1 gene EYA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome False 3 0;0;0 0.278 False ENSG00000104313 ENSG00000104313 HGNC:3519 EYA4 gene EYA4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 3 0;0;0 0.278 False ENSG00000112319 ENSG00000112319 HGNC:3522 EZH2 gene EZH2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome 2 False 3 0;0;0 0.278 False ENSG00000106462 ENSG00000106462 HGNC:3527 F10 gene F10 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Factor X deficiency, MIM# 227600" False 3 100;0;0 0.278 True ENSG00000126218 ENSG00000126218 HGNC:3528 F11 gene F11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Factor XI deficiency False 3 0;0;0 0.278 False ENSG00000088926 ENSG00000088926 HGNC:3529 F13A1 gene F13A1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Factor XIIIA deficiency, MIM# 613225" False 3 100;0;0 0.278 True ENSG00000124491 ENSG00000124491 HGNC:3531 F2 gene F2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Prothrombin deficiency False 3 0;0;0 0.278 False ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Factor V deficiency MIM# 227400;Thrombophilia due to activated protein C resistance MIM# 188055 False 3 100;0;0 0.278 True ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency MIM# 227500 False 3 100;0;0 0.278 True ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemophilia A False 3 0;0;0 0.278 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemophilia B False 3 0;0;0 0.278 False ENSG00000101981 ENSG00000101981 HGNC:3551 FAH gene FAH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I False 3 0;0;0 0.278 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM126A gene FAM126A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypomyelination and congenital cataract False 3 0;0;0 0.278 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM161A gene FAM161A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy False 3 0;0;0 0.278 False ENSG00000170264 ENSG00000170264 HGNC:25808 FAM20C gene FAM20C BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteosclerotic bone dysplasia False 3 0;0;0 0.278 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Syndactyly - telecanthus - anogenital and renal malformations False 3 0;0;0 0.278 False - ENSG00000262919 HGNC:28434 FANCA gene FANCA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCG gene FANCG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 3 0;0;0 0.278 False ENSG00000140525 ENSG00000140525 HGNC:25568 FBN1 gene FBN1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan's syndrome;Weill-Marchesani syndrome 2, dominant;Shprintzen-Goldberg syndrome False 3 100;0;0 0.278 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital MIM#121050 33571691 False 3 100;0;0 0.278 True ENSG00000138829 ENSG00000138829 HGNC:3604 FBP1 gene FBP1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency MIM# 229700 False 3 100;0;0 0.278 True ENSG00000165140 ENSG00000165140 HGNC:3606 FGA gene FGA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia False 3 0;0;0 0.278 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia False 3 0;0;0 0.278 False ENSG00000171564 ENSG00000171564 HGNC:3662 FGD1 gene FGD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome False 3 0;0;0 0.278 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGD4 gene FGD4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000139132 ENSG00000139132 HGNC:19125 FGF3 gene FGF3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia False 3 0;0;0 0.278 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGFR1 gene FGFR1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kallmann syndrome False 3 0;0;0 0.278 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Beare-Stevenson cutis gyrata syndrome;Crouzon syndrome;Apert syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome False 3 0;0;0 0.278 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Crouzon syndrome with acanthosis nigricans;Achondroplasia;Muenke syndrome;CATSHL syndrome;Thanatophoric dysplasia type 1;LADD syndrome;Hypochondroplasia False 3 100;0;0 0.278 True ENSG00000068078 ENSG00000068078 HGNC:3690 FGG gene FGG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia False 3 0;0;0 0.278 False ENSG00000171557 ENSG00000171557 HGNC:3694 FH gene FH BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fumurase deficiency MIM# 606812 False 3 100;0;0 0.278 True ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscle-eye-brain disease;Muscular dystrophy, limb girdle 2I False 3 0;0;0 0.278 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies;Muscular dystrophy, Fukuyama False 3 0;0;0 0.278 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLCN gene FLCN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome False 3 0;0;0 0.278 False ENSG00000154803 ENSG00000154803 HGNC:27310 FLNA gene FLNA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Otopalatodigital spectrum disorder False 3 0;0;0 0.278 False ENSG00000196924 ENSG00000196924 HGNC:3754 FOXC1 gene FOXC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome False 3 0;0;0 0.278 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema, primary False 3 0;0;0 0.278 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXF1 gene FOXF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins False 3 0;0;0 0.278 False ENSG00000103241 ENSG00000103241 HGNC:3809 FOXI1 gene FOXI1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal sensorineural deafness and distal renal tubular acidosis False 3 100;0;0 0.278 True ENSG00000168269 ENSG00000168269 HGNC:3815 FOXP3 gene FOXP3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females IPEX syndrome False 3 0;0;0 0.278 False ENSG00000049768 ENSG00000049768 HGNC:6106 FRAS1 gene FRAS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 3 0;0;0 0.278 False ENSG00000138759 ENSG00000138759 HGNC:19185 FTL gene FTL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroferritinopathy False 3 0;0;0 0.278 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUCA1 gene FUCA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fucosidosis False 3 0;0;0 0.278 False ENSG00000179163 ENSG00000179163 HGNC:4006 FXN gene FXN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia False 3 0;0;0 0.278 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia False 3 0;0;0 0.278 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neutropaenia, congenital False 3 0;0;0 0.278 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Glucose-6-phosphate dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000160211 ENSG00000160211 HGNC:4057 GAA gene GAA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II False 3 0;0;0 0.278 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Krabbe disease False 3 0;0;0 0.278 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALK1 gene GALK1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts False 3 0;0;0 0.278 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA False 3 0;0;0 0.278 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALT gene GALT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Galactosaemia False 3 0;0;0 0.278 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAN gene GAN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy False 3 0;0;0 0.278 False ENSG00000261609 ENSG00000261609 HGNC:4137 GATA2 gene GATA2 Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21 MIM# 614172;Emberger syndrome MIM# 614038 PMID: 25397911, 30047422 False 3 50;50;0 0.278 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 False 3 100;0;0 0.278 True ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 3 0;0;0 0.278 False ENSG00000136574 ENSG00000136574 HGNC:4173 GBA gene GBA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Gaucher disease 1 False 3 0;0;0 0.278 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCDH gene GCDH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I False 3 0;0;0 0.278 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCK gene GCK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia, familial False 3 0;0;0 0.278 False ENSG00000106633 ENSG00000106633 HGNC:4195 GDAP1 gene GDAP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFAP gene GFAP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease False 3 0;0;0 0.278 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 False 3 0;0;0 0.278 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, limb-girdle False 3 0;0;0 0.278 False ENSG00000198380 ENSG00000198380 HGNC:4241 GGCX gene GGCX Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 False 3 100;0;0 0.278 True ENSG00000115486 ENSG00000115486 HGNC:4247 GIF gene GIF Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency # 261000 False 3 100;0;0 0.278 True ENSG00000134812 ENSG00000134812 HGNC:4268 GIPC3 gene GIPC3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss False 3 0;0;0 0.278 False ENSG00000179855 ENSG00000179855 HGNC:18183 GJA1 gene GJA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia False 3 0;0;0 0.278 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth neuropathy False 3 0;0;0 0.278 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJB2 gene GJB2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness;Deafness and palmoplantar keratoderma False 3 0;0;0 0.278 False ENSG00000165474 ENSG00000165474 HGNC:4284 GJC2 gene GJC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pelizaeus-Merzbacher-like disease False 3 0;0;0 0.278 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease False 3 0;0;0 0.278 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Gangliosidosis GM1 False 3 0;0;0 0.278 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy False 3 0;0;0 0.278 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLI3 gene GLI3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome False 3 0;0;0 0.278 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA1 gene GLRA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperekplexia, hereditary 1, autosomal dominant or recessive False 3 0;0;0 0.278 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLUD1 gene GLUD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism False 3 0;0;0 0.278 False ENSG00000148672 ENSG00000148672 HGNC:4335 GNAS gene GNAS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening Unknown Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism False 3 0;0;0 0.278 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNE gene GNE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Inclusion body myopathy False 3 0;0;0 0.278 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNPTAB gene GNPTAB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II False 3 0;0;0 0.278 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma False 3 0;0;0 0.278 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IIId False 3 0;0;0 0.278 False ENSG00000135677 ENSG00000135677 HGNC:4422 GPC3 gene GPC3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome False 3 0;0;0 0.278 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPR143 gene GPR143 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ocular albinism, type I False 3 0;0;0 0.278 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPSM2 gene GPSM2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome False 3 0;0;0 0.278 False ENSG00000121957 ENSG00000121957 HGNC:29501 GRHL2 gene GRHL2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant hearing loss, MIM# 608641 False 3 50;50;0 0.278 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRHPR gene GRHPR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II False 3 0;0;0 0.278 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRXCR1 gene GRXCR1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 25, MIM# 613285" 20137778;25802247;26226137;26445815;26969326;20137774 False 3 100;0;0 0.278 True ENSG00000215203 ENSG00000215203 HGNC:31673 GSS gene GSS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency False 3 0;0;0 0.278 False ENSG00000100983 ENSG00000100983 HGNC:4624 GUSB gene GUSB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII False 3 0;0;0 0.278 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYS2 gene GYS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0 False 3 0;0;0 0.278 False ENSG00000111713 ENSG00000111713 HGNC:4707 HADH gene HADH BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 4 False 3 100;0;0 0.278 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency False 3 0;0;0 0.278 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency False 3 0;0;0 0.278 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS2 gene HARS2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome;autosomal recessive sensorineural hearing loss False 3 100;0;0 0.278 True ENSG00000112855 ENSG00000112855 HGNC:4817 HBA1 gene HBA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thalassaemia alpha False 3 0;0;0 0.278 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thalassemia, alpha False 3 0;0;0 0.278 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Beta-thalassemia False 3 0;0;0 0.278 False ENSG00000244734 ENSG00000244734 HGNC:4827 HDAC8 gene HDAC8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle False 3 0;0;0 0.278 False ENSG00000147099 ENSG00000147099 HGNC:13315 HEXA gene HEXA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease False 3 0;0;0 0.278 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms False 3 0;0;0 0.278 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGD gene HGD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Alkaptonuria False 3 0;0;0 0.278 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGF gene HGF BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 100;0;0 0.278 True ENSG00000019991 ENSG00000019991 HGNC:4893 HGSNAT gene HGSNAT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IIIC False 3 0;0;0 0.278 False ENSG00000165102 ENSG00000165102 HGNC:26527 HINT1 gene HINT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Axonal neuropathy with neuromyotonia False 3 0;0;0 0.278 False ENSG00000169567 ENSG00000169567 HGNC:4912 HLCS gene HLCS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency False 3 0;0;0 0.278 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxy-3-methylglutaric aciduria False 3 0;0;0 0.278 False ENSG00000117305 ENSG00000117305 HGNC:5005 HNF4A gene HNF4A BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoglycaemia, hyperinsulinaemic False 3 100;0;0 0.278 True ENSG00000101076 ENSG00000101076 HGNC:5024 HOMER2 gene HOMER2 Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant non syndromic deafness False 3 100;0;0 0.278 True ENSG00000103942 ENSG00000103942 HGNC:17513 HPRT1 gene HPRT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome 1 False 3 0;0;0 0.278 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 False 3 0;0;0 0.278 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3 False 3 0;0;0 0.278 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4 False 3 0;0;0 0.278 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 False 3 0;0;0 0.278 False ENSG00000110756 ENSG00000110756 HGNC:17022 HRAS gene HRAS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome False 3 0;0;0 0.278 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B10 gene HSD17B10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females 17-beta-hydroxysteroid dehydrogenase X deficiency False 3 0;0;0 0.278 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B3 gene HSD17B3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia False 3 0;0;0 0.278 False ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency False 3 0;0;0 0.278 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B2 gene HSD3B2 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 False 3 100;0;0 0.278 True ENSG00000203859 ENSG00000203859 HGNC:5218 HSD3B7 gene HSD3B7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3 beta-hydroxysteroid dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPB8 gene HSPB8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2L False 3 0;0;0 0.278 False ENSG00000152137 ENSG00000152137 HGNC:30171 HSPG2 gene HSPG2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome False 3 0;0;0 0.278 False ENSG00000142798 ENSG00000142798 HGNC:5273 HTRA1 gene HTRA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal CARASIL syndrome False 3 0;0;0 0.278 False ENSG00000166033 ENSG00000166033 HGNC:9476 IDS gene IDS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II False 3 0;0;0 0.278 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih False 3 0;0;0 0.278 False ENSG00000127415 ENSG00000127415 HGNC:5391 IGHMBP2 gene IGHMBP2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with respiratory distress False 3 0;0;0 0.278 False ENSG00000132740 ENSG00000132740 HGNC:5542 IGSF1 gene IGSF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Central hypothyroidism and testicular enlargement False 3 0;0;0 0.278 False ENSG00000147255 ENSG00000147255 HGNC:5948 IKBKG gene IKBKG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti 1 False 3 0;0;0 0.278 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL10RA gene IL10RA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease False 3 0;0;0 0.278 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL2RG gene IL2RG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked False 3 0;0;0 0.278 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 False 3 100;0;0 0.278 True ENSG00000168685 ENSG00000168685 HGNC:6024 ILDR1 gene ILDR1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000145103 ENSG00000145103 HGNC:28741 INS gene INS Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life False 3 100;0;0 0.278 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leprechaunism False 3 0;0;0 0.278 False ENSG00000171105 ENSG00000171105 HGNC:6091 INVS gene INVS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2 False 3 0;0;0 0.278 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5 False 3 0;0;0 0.278 False ENSG00000173226 ENSG00000173226 HGNC:28949 IRF6 gene IRF6 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted van der Woude syndrome MIM# 119300 False 3 100;0;0 0.278 True ENSG00000117595 ENSG00000117595 HGNC:6121 ISPD gene ISPD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 False 3 0;0;0 0.278 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA3 gene ITGA3 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital False 3 100;0;0 0.278 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGB4 gene ITGB4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia False 3 0;0;0 0.278 False ENSG00000132470 ENSG00000132470 HGNC:6158 IVD gene IVD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia False 3 0;0;0 0.278 False ENSG00000128928 ENSG00000128928 HGNC:6186 IYD gene IYD BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4, MIM# 274800 18434651;18765512;30240412 False 3 100;0;0 0.278 True ENSG00000009765 ENSG00000009765 HGNC:21071 JAG1 gene JAG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome False 3 0;0;0 0.278 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAK3 gene JAK3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type False 3 0;0;0 0.278 False ENSG00000105639 ENSG00000105639 HGNC:6193 KANSL1 gene KANSL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome False 3 0;0;0 0.278 False ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal deafness with progressive leukodystrophy 30737337;31116475;30715177 False 3 100;0;0 0.278 True ENSG00000065427 ENSG00000065427 HGNC:6215 KAT6B gene KAT6B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome MIM #603736;Genitopatellar syndrome MIM #606170 False 3 100;0;0 0.278 True ENSG00000156650 ENSG00000156650 HGNC:17582 KBTBD13 gene KBTBD13 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA1 gene KCNA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 1 False 3 0;0;0 0.278 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ1 gene KCNJ1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome False 3 0;0;0 0.278 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ11 gene KCNJ11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial False 3 0;0;0 0.278 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ2 gene KCNJ2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen cardiodysrhythmic periodic paralysis False 3 0;0;0 0.278 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ4 gene KCNQ4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 3 0;0;0 0.278 False ENSG00000117013 ENSG00000117013 HGNC:6298 KCTD7 gene KCTD7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic False 3 0;0;0 0.278 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDM6A gene KDM6A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Kabuki syndrome 2 False 3 0;0;0 0.278 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIF21A gene KIF21A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital False 3 0;0;0 0.278 False ENSG00000139116 ENSG00000139116 HGNC:19349 KIT gene KIT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Piebaldism False 3 0;0;0 0.278 False ENSG00000157404 ENSG00000157404 HGNC:6342 KLF1 gene KLF1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyserythropoietic anaemia, congenital, type IV, MIM# 613673;MONDO:0013355 21055716;33339573;32815883;32221653;32032242;31818881 False 3 100;0;0 0.278 True ENSG00000105610 ENSG00000105610 HGNC:6345 KLHL40 gene KLHL40 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000239474 ENSG00000239474 HGNC:16905 KMT2D gene KMT2D BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1 False 3 0;0;0 0.278 False ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome False 3 0;0;0 0.278 False ENSG00000133703 ENSG00000133703 HGNC:6407 KRT14 gene KRT14 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex False 3 0;0;0 0.278 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita False 3 0;0;0 0.278 False ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita False 3 0;0;0 0.278 False ENSG00000128422 ENSG00000128422 HGNC:6427 KRT5 gene KRT5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex False 3 0;0;0 0.278 False ENSG00000186081 ENSG00000186081 HGNC:6442 KRT6A gene KRT6A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita False 3 0;0;0 0.278 False ENSG00000205420 ENSG00000205420 HGNC:6443 L1CAM gene L1CAM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked hydrocephalus syndrome False 3 0;0;0 0.278 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMA2 gene LAMA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital merosin-deficient False 3 0;0;0 0.278 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA3 gene LAMA3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional False 3 0;0;0 0.278 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB2 gene LAMB2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pierson syndrome False 3 0;0;0 0.278 False ENSG00000172037 ENSG00000172037 HGNC:6487 LAMB3 gene LAMB3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional False 3 0;0;0 0.278 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional False 3 0;0;0 0.278 False ENSG00000058085 ENSG00000058085 HGNC:6493 LAMP2 gene LAMP2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Danon disease False 3 0;0;0 0.278 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Walker-Warburg syndrome False 3 0;0;0 0.278 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS2 gene LARS2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome False 3 100;0;0 0.278 True ENSG00000011376 ENSG00000011376 HGNC:17095 LDLR gene LDLR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia False 3 0;0;0 0.278 False ENSG00000130164 ENSG00000130164 HGNC:6547 LEPR gene LEPR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency False 3 0;0;0 0.278 False ENSG00000116678 ENSG00000116678 HGNC:6554 LHFPL5 gene LHFPL5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000197753 ENSG00000197753 HGNC:21253 LHX3 gene LHX3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined False 3 0;0;0 0.278 False ENSG00000107187 ENSG00000107187 HGNC:6595 LIFR gene LIFR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome False 3 0;0;0 0.278 False ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with sensitivity to ionizing radiation False 3 100;0;0 0.278 False ENSG00000174405 ENSG00000174405 HGNC:6601 LIPA gene LIPA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Wolman syndrome False 3 0;0;0 0.278 False ENSG00000107798 ENSG00000107798 HGNC:6617 LITAF gene LITAF BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000189067 ENSG00000189067 HGNC:16841 LMBRD1 gene LMBRD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria False 3 0;0;0 0.278 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMOD3 gene LMOD3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail patella syndrome False 3 0;0;0 0.278 False ENSG00000136944 ENSG00000136944 HGNC:6654 LOXHD1 gene LOXHD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000167210 ENSG00000167210 HGNC:26521 LRP2 gene LRP2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome False 3 0;0;0 0.278 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome False 3 0;0;0 0.278 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteopetrosis, autosomal dominant;Osteoporosis-pseudoglioma syndrome False 3 0;0;0 0.278 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRPPRC gene LRPPRC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leigh syndrome False 3 0;0;0 0.278 False ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC6 gene LRRC6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 3 0;0;0 0.278 False ENSG00000129295 ENSG00000129295 HGNC:16725 LRSAM1 gene LRSAM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000148356 ENSG00000148356 HGNC:25135 LRTOMT gene LRTOMT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000184154 ENSG00000184154 HGNC:25033 LTBP4 gene LTBP4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC False 3 0;0;0 0.278 False ENSG00000090006 ENSG00000090006 HGNC:6717 LYST gene LYST BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome False 3 0;0;0 0.278 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAFB gene MAFB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome False 3 0;0;0 0.278 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAGI2 gene MAGI2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile spasms False 3 0;0;0 0.278 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAN2B1 gene MAN2B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha False 3 0;0;0 0.278 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAP2K1 gene MAP2K1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome False 3 0;0;0 0.278 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome False 3 0;0;0 0.278 False ENSG00000126934 ENSG00000126934 HGNC:6842 MARVELD2 gene MARVELD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000152939 ENSG00000152939 HGNC:26401 MBTPS2 gene MBTPS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis follicularis, alopecia & photophobia False 3 0;0;0 0.278 False ENSG00000012174 ENSG00000012174 HGNC:15455 MCFD2 gene MCFD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Factor V and Factor VIII deficiency, combined False 3 0;0;0 0.278 False ENSG00000180398 ENSG00000180398 HGNC:18451 MCOLN1 gene MCOLN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV False 3 0;0;0 0.278 False ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive False 3 0;0;0 0.278 False ENSG00000147316 ENSG00000147316 HGNC:6954 MECP2 gene MECP2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Rett syndrome False 3 0;0;0 0.278 False ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability False 3 0;0;0 0.278 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED25 gene MED25 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449;Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 25792360;32816121 False 3 100;0;0 0.278 True ENSG00000104973 ENSG00000104973 HGNC:28845 MEFV gene MEFV BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mediterranean fever, familial False 3 0;0;0 0.278 False ENSG00000103313 ENSG00000103313 HGNC:6998 MEGF10 gene MEGF10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset False 3 0;0;0 0.278 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEN1 gene MEN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia I False 3 0;0;0 0.278 False ENSG00000133895 ENSG00000133895 HGNC:7010 MFN2 gene MFN2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal False 3 0;0;0 0.278 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 8808595;11228641;22105986;33044030;31420886 False 3 100;0;0 0.278 True ENSG00000168282 ENSG00000168282 HGNC:7045 MGP gene MGP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Keutel syndrome False 3 0;0;0 0.278 False ENSG00000111341 ENSG00000111341 HGNC:7060 MITF gene MITF BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome False 3 0;0;0 0.278 False ENSG00000187098 ENSG00000187098 HGNC:7105 MKKS gene MKKS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome False 3 0;0;0 0.278 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome False 3 0;0;0 0.278 False ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy False 3 0;0;0 0.278 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency False 3 0;0;0 0.278 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive False 3 0;0;0 0.278 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type False 3 0;0;0 0.278 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type False 3 0;0;0 0.278 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type False 3 0;0;0 0.278 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency False 3 0;0;0 0.278 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency False 3 0;0;0 0.278 False ENSG00000164172 ENSG00000164172 HGNC:7193 MPDU1 gene MPDU1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 11733564;11733556;31741824;29721919 False 3 100;0;0 0.278 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 1b False 3 0;0;0 0.278 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPL gene MPL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Amegakaryocytic thrombocytopaenia, congenital False 3 0;0;0 0.278 False ENSG00000117400 ENSG00000117400 HGNC:7217 MPV17 gene MPV17 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome, hepatic False 3 0;0;0 0.278 False ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000158887 ENSG00000158887 HGNC:7225 MSX2 gene MSX2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parietal foramina 1 False 3 0;0;0 0.278 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTM1 gene MTM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked False 3 0;0;0 0.278 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTR gene MTR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria False 3 0;0;0 0.278 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria False 3 0;0;0 0.278 False ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinaemia False 3 0;0;0 0.278 False ENSG00000138823 ENSG00000138823 HGNC:7467 MUSK gene MUSK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type False 3 0;0;0 0.278 False ENSG00000146085 ENSG00000146085 HGNC:7526 MUTYH gene MUTYH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal MUTYH-associated polyposis False 3 0;0;0 0.278 False ENSG00000132781 ENSG00000132781 HGNC:7527 MVK gene MVK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperimmunoglobulin D and periodic fever syndrome False 3 0;0;0 0.278 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYBPC1 gene MYBPC1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B 614335;Lethal congenital contracture syndrome 4, MIM# 614915;Myopathy, congenital, with tremor MIM#618524 20045868;22610851;23873045;26661508;31264822;31025394 False 3 100;0;0 0.278 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYCN gene MYCN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome False 3 0;0;0 0.278 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYH14 gene MYH14 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 3 0;0;0 0.278 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH2 gene MYH2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia False 3 0;0;0 0.278 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal False 3 0;0;0 0.278 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH7 gene MYH7 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, OMIM:192600;Laing early-onset distal myopathy, MONDO:0008050;Left ventricular noncompaction 5, OMIM:613426;Cardiomyopathy, dilated, 1S, OMIM:613426;Hypertrophic cardiomyopathy 1, MONDO:0008647;Laing distal myopathy, OMIM:160500;Dilated cardiomyopathy 1S, MONDO:0013262 False 3 100;0;0 0.278 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYH9 gene MYH9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and progressive sensorineural deafness False 3 0;0;0 0.278 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO15A gene MYO15A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 3 0;0;0 0.278 False ENSG00000091536 ENSG00000091536 HGNC:7594 MYO3A gene MYO3A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 3 0;0;0 0.278 False ENSG00000095777 ENSG00000095777 HGNC:7601 MYO6 gene MYO6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness False 3 0;0;0 0.278 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome False 3 0;0;0 0.278 False ENSG00000137474 ENSG00000137474 HGNC:7606 NAGA gene NAGA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal N-acetylgalactosaminidase alpha deficiency False 3 0;0;0 0.278 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sanfilippo syndrome type B False 3 0;0;0 0.278 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthetase deficiency False 3 0;0;0 0.278 False ENSG00000161653 ENSG00000161653 HGNC:17996 NBN gene NBN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome False 3 0;0;0 0.278 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCF1 gene NCF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease False 3 0;0;0 0.278 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease False 3 0;0;0 0.278 False ENSG00000116701 ENSG00000116701 HGNC:7661 NDP gene NDP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease False 3 0;0;0 0.278 False ENSG00000124479 ENSG00000124479 HGNC:7678 NEB gene NEB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy False 3 0;0;0 0.278 False ENSG00000183091 ENSG00000183091 HGNC:7720 NEFL gene NEFL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000104725 ENSG00000277586 HGNC:7739 NEK1 gene NEK1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 21211617;22499340;25492405;28123176 False 3 100;0;0 0.278 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, MIM# 615415;MONDO:0014174 33131162;23418306;26862157;26697755;26967905;23274954;31633649 False 3 100;0;0 0.278 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sialidosis False 3 0;0;0 0.278 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROG3 gene NEUROG3 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 4, malabsorptive, congenital, MIM# 610370 16855267;32574610;28724572;21490072 False 3 100;0;0 0.278 True ENSG00000122859 ENSG00000122859 HGNC:13806 NF1 gene NF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 False 3 0;0;0 0.278 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis 2 False 3 0;0;0 0.278 False ENSG00000186575 ENSG00000186575 HGNC:7773 NGLY1 gene NGLY1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Developmental delay, multifocal epilepsy & abnormal liver function False 3 0;0;0 0.278 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHEJ1 gene NHEJ1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation False 3 0;0;0 0.278 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora False 3 0;0;0 0.278 False ENSG00000187566 ENSG00000187566 HGNC:21576 NIPAL4 gene NIPAL4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, autosomal recessive False 3 0;0;0 0.278 False ENSG00000172548 ENSG00000172548 HGNC:28018 NIPBL gene NIPBL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome False 3 0;0;0 0.278 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKX2-1 gene NKX2-1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress False 3 0;0;0 0.278 False ENSG00000136352 ENSG00000136352 HGNC:11825 NOG gene NOG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Symphalangism, proximal, 1A False 3 0;0;0 0.278 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH2 gene NOTCH2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney syndrome False 3 0;0;0 0.278 False ENSG00000134250 ENSG00000134250 HGNC:7882 NOTCH3 gene NOTCH3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy False 3 0;0;0 0.278 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C1 False 3 0;0;0 0.278 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2 False 3 0;0;0 0.278 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis False 3 0;0;0 0.278 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis False 3 0;0;0 0.278 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis False 3 0;0;0 0.278 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital nephrotic syndrome, Finnish type False 3 0;0;0 0.278 False ENSG00000161270 ENSG00000161270 HGNC:7908 NR0B1 gene NR0B1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital adrenal hypoplasia False 3 0;0;0 0.278 False ENSG00000169297 ENSG00000169297 HGNC:7960 NSD1 gene NSD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome False 3 0;0;0 0.278 False ENSG00000165671 ENSG00000165671 HGNC:14234 NTRK1 gene NTRK1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital insensitivity to pain with anhidrosis MIM#256800 False 3 100;0;0 0.278 True ENSG00000198400 ENSG00000198400 HGNC:8031 OBSL1 gene OBSL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome False 3 0;0;0 0.278 False ENSG00000124006 ENSG00000124006 HGNC:29092 OCA2 gene OCA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous False 3 0;0;0 0.278 False ENSG00000104044 ENSG00000104044 HGNC:8101 OCRL gene OCRL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe oculocerebrorenal syndrome False 3 0;0;0 0.278 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Oral-facial-digital syndrome False 3 0;0;0 0.278 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 1 False 3 0;0;0 0.278 False ENSG00000198836 ENSG00000198836 HGNC:8140 ORC1 gene ORC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 3 0;0;0 0.278 False ENSG00000085840 ENSG00000085840 HGNC:8487 OSMR gene OSMR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, primary cutaneous False 3 0;0;0 0.278 False ENSG00000145623 ENSG00000145623 HGNC:8507 OSTM1 gene OSTM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis False 3 0;0;0 0.278 False ENSG00000081087 ENSG00000081087 HGNC:21652 OTC gene OTC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency False 3 0;0;0 0.278 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTOA gene OTOA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000115155 ENSG00000115155 HGNC:8515 OTOGL gene OTOGL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000165899 ENSG00000165899 HGNC:26901 P2RY12 gene P2RY12 Expert list;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 8, MIM# 609821;MONDO:0012354 11196645;12578987;29117459;19237732 False 3 100;0;0 0.278 True ENSG00000169313 ENSG00000169313 HGNC:18124 PAH gene PAH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Phenylketonuria False 3 0;0;0 0.278 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK3 gene PAK3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation syndrome, X-linked False 3 0;0;0 0.278 False ENSG00000077264 ENSG00000077264 HGNC:8592 PALB2 gene PALB2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, MIM# 610832 17200671 False 3 100;0;0 0.278 True ENSG00000083093 ENSG00000083093 HGNC:26144 PANK2 gene PANK2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1 False 3 0;0;0 0.278 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAX3 gene PAX3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome False 3 0;0;0 0.278 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia False 3 0;0;0 0.278 False ENSG00000007372 ENSG00000007372 HGNC:8620 PAX8 gene PAX8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia False 3 0;0;0 0.278 False ENSG00000125618 ENSG00000125618 HGNC:8622 PC gene PC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency False 3 0;0;0 0.278 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidemia False 3 0;0;0 0.278 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidemia False 3 0;0;0 0.278 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH15 gene PCDH15 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome False 3 0;0;0 0.278 False ENSG00000150275 ENSG00000150275 HGNC:14674 PCNT gene PCNT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism type 2 False 3 0;0;0 0.278 False ENSG00000160299 ENSG00000160299 HGNC:16068 PDE4D gene PDE4D BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance False 3 0;0;0 0.278 False ENSG00000113448 ENSG00000113448 HGNC:8783 PDHA1 gene PDHA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pyruvate dehydrogenase deficiency False 3 0;0;0 0.278 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase complex deficiency False 3 0;0;0 0.278 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDX1 gene PDX1 Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis, MIM# # 260370 False 3 100;0;0 0.278 True ENSG00000139515 ENSG00000139515 HGNC:6107 PDZD7 gene PDZD7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome False 3 0;0;0 0.278 False ENSG00000186862 ENSG00000186862 HGNC:26257 PEX1 gene PEX1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX2 gene PEX2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 3 0;0;0 0.278 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata;Refsum disease False 3 0;0;0 0.278 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 7 False 3 0;0;0 0.278 False ENSG00000152556 ENSG00000152556 HGNC:8877 PHF6 gene PHF6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome False 3 0;0;0 0.278 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHKA2 gene PHKA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphorylase kinase deficiency False 3 0;0;0 0.278 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency False 3 0;0;0 0.278 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency False 3 0;0;0 0.278 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Refsum disease False 3 0;0;0 0.278 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIEZO2 gene PIEZO2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 5 False 3 0;0;0 0.278 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 22305531;24357517;24706016;26545172;33333793;32694024 False 3 100;0;0 0.278 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIK3CD gene PIK3CD Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 14, MIM # 615513 False 3 100;0;0 0.278 True ENSG00000171608 ENSG00000171608 HGNC:8977 PINK1 gene PINK1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset False 3 0;0;0 0.278 False ENSG00000158828 ENSG00000158828 HGNC:14581 PKD1 gene PKD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease False 3 0;0;0 0.278 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease False 3 0;0;0 0.278 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Polycystic kidney and hepatic disease False 3 0;0;0 0.278 False ENSG00000170927 ENSG00000170927 HGNC:9016 PKLR gene PKLR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency False 3 0;0;0 0.278 False ENSG00000143627 ENSG00000143627 HGNC:9020 PLA2G6 gene PLA2G6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 False 3 0;0;0 0.278 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLCE1 gene PLCE1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome False 3 0;0;0 0.278 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLEC gene PLEC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy;Epidermolysis bullosa simplex False 3 0;0;0 0.278 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLG gene PLG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary angioedema-4 (HAE4), MIM#619360;Plasminogen deficiency, type I, MIM# 217090 28795768;29548426;29987869;9242524;10233898;21174000;21174000 False 3 100;0;0 0.278 True ENSG00000122194 ENSG00000122194 HGNC:9071 PLOD1 gene PLOD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type False 3 0;0;0 0.278 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLP1 gene PLP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked;Pelizaeus-Merzbacher disease False 3 0;0;0 0.278 False ENSG00000123560 ENSG00000123560 HGNC:9086 PLS1 gene PLS1 Expert list;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness False 3 100;0;0 0.278 True ENSG00000120756 ENSG00000120756 HGNC:9090 PMM2 gene PMM2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia False 3 0;0;0 0.278 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMP22 gene PMP22 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000109099 ENSG00000109099 HGNC:9118 PNKD gene PNKD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesiogenic dyskinesia False 3 0;0;0 0.278 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly - seizures - developmental delay False 3 0;0;0 0.278 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPO gene PNPO BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, neonatal False 3 0;0;0 0.278 False ENSG00000108439 ENSG00000108439 HGNC:30260 POLG gene POLG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal POLG-Related Ataxia Neuropathy Spectrum Disorders False 3 0;0;0 0.278 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLH gene POLH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000170734 ENSG00000170734 HGNC:9181 POMGNT1 gene POMGNT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) False 3 0;0;0 0.278 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 False 3 0;0;0 0.278 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 False 3 0;0;0 0.278 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Disordered steroidogenesis with and without Antley-Bixler syndrome False 3 0;0;0 0.278 False ENSG00000127948 ENSG00000127948 HGNC:9208 PORCN gene PORCN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Focal dermal hypoplasia False 3 0;0;0 0.278 False ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency False 3 0;0;0 0.278 False ENSG00000064835 ENSG00000064835 HGNC:9210 POU3F4 gene POU3F4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked False 3 0;0;0 0.278 False ENSG00000196767 ENSG00000196767 HGNC:9217 POU4F3 gene POU4F3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 3 0;0;0 0.278 False ENSG00000091010 ENSG00000091010 HGNC:9220 PPT1 gene PPT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neuronal ceroid lipofuscinosis False 3 0;0;0 0.278 False ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation False 3 0;0;0 0.278 False ENSG00000102103 ENSG00000102103 HGNC:9330 PRF1 gene PRF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2 False 3 0;0;0 0.278 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRKAR1A gene PRKAR1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Carney complex False 3 0;0;0 0.278 False ENSG00000108946 ENSG00000108946 HGNC:9388 PROC gene PROC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thrombophilia due to protein C deficiency False 3 0;0;0 0.278 False ENSG00000115718 ENSG00000115718 HGNC:9451 PROKR2 gene PROKR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism False 3 0;0;0 0.278 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 False 3 0;0;0 0.278 False ENSG00000175325 ENSG00000175325 HGNC:9455 PROS1 gene PROS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Protein S deficiency False 3 0;0;0 0.278 False ENSG00000184500 ENSG00000184500 HGNC:9456 PRX gene PRX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000105227 ENSG00000105227 HGNC:13797 PSAP gene PSAP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy False 3 0;0;0 0.278 False ENSG00000197746 ENSG00000197746 HGNC:9498 PTCH1 gene PTCH1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nevoid basal cell carcinoma syndrome False 3 0;0;0 0.278 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden disease;Bannayan-Riley-Ruvalcaba syndrome False 3 0;0;0 0.278 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTH1R gene PTH1R BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondrodysplasia False 3 0;0;0 0.278 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTPN11 gene PTPN11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome False 3 0;0;0 0.278 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPRC gene PTPRC Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 False 3 100;0;0 0.278 True ENSG00000081237 ENSG00000081237 HGNC:9666 PTS gene PTS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A False 3 0;0;0 0.278 False ENSG00000150787 ENSG00000150787 HGNC:9689 PYGL gene PYGL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI False 3 0;0;0 0.278 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert list;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal McCardle disease MIM# 608455 False 3 100;0;0 0.278 True ENSG00000068976 ENSG00000068976 HGNC:9726 QDPR gene QDPR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dihydropteridine reductase deficiency False 3 0;0;0 0.278 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB23 gene RAB23 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome False 3 0;0;0 0.278 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB27A gene RAB27A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome False 3 0;0;0 0.278 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAB3GAP1 gene RAB3GAP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome False 3 0;0;0 0.278 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 23420520;20967465 False 3 100;0;0 0.278 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAB7A gene RAB7A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000075785 ENSG00000075785 HGNC:9788 RAF1 gene RAF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome False 3 0;0;0 0.278 False ENSG00000132155 ENSG00000132155 HGNC:9829 RAG1 gene RAG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Omenn syndrome False 3 0;0;0 0.278 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Omenn syndrome False 3 0;0;0 0.278 False ENSG00000175097 ENSG00000175097 HGNC:9832 RAI1 gene RAI1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Potocki-Lupski syndrome;Smith-Magenis syndrome False 3 0;0;0 0.278 False ENSG00000108557 ENSG00000108557 HGNC:9834 RAPSN gene RAPSN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome False 3 0;0;0 0.278 False ENSG00000165917 ENSG00000165917 HGNC:9863 RASA1 gene RASA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation False 3 0;0;0 0.278 False ENSG00000145715 ENSG00000145715 HGNC:9871 RB1 gene RB1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoblastoma False 3 0;0;0 0.278 False ENSG00000139687 ENSG00000139687 HGNC:9884 RBM8A gene RBM8A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thrombocytopaenia-absent radius syndrome False 3 0;0;0 0.278 False ENSG00000131795 ENSG00000265241 HGNC:9905 RDX gene RDX BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 24, MIM# 611022 17226784;19215054;22567349;26226137;15314067 False 3 100;0;0 0.278 True ENSG00000137710 ENSG00000137710 HGNC:9944 RECQL4 gene RECQL4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome;Rothmund-Thomson syndrome;Rapadilino syndrome False 3 0;0;0 0.278 False ENSG00000160957 ENSG00000160957 HGNC:9949 REN gene REN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 3 0;0;0 0.278 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIA;Multiple endocrine neoplasia IIB False 3 0;0;0 0.278 False ENSG00000165731 ENSG00000165731 HGNC:9967 RETREG1 gene RETREG1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115;MONDO:0013142 19838196;24327336;31737055;31596031 False 3 100;0;0 0.278 True ENSG00000154153 ENSG00000154153 HGNC:25964 RMRP gene RMRP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia False 3 0;0;0 0.278 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome False 3 0;0;0 0.278 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome False 3 0;0;0 0.278 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome False 3 0;0;0 0.278 False ENSG00000172922 ENSG00000172922 HGNC:24116 ROR2 gene ROR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type B1;Robinow syndrome False 3 0;0;0 0.278 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGR gene RPGR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa False 3 0;0;0 0.278 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1L gene RPGRIP1L BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome False 3 0;0;0 0.278 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL11 gene RPL11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL5 gene RPL5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS15 gene RPS15 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000115268 ENSG00000115268 HGNC:10388 RPS17 gene RPS17 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia False 3 0;0;0 0.278 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS6KA3 gene RPS6KA3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Coffin-Lowry syndrome False 3 0;0;0 0.278 False ENSG00000177189 ENSG00000177189 HGNC:10432 RRM2B gene RRM2B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome False 3 0;0;0 0.278 False ENSG00000048392 ENSG00000048392 HGNC:17296 RS1 gene RS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis, X linked False 3 0;0;0 0.278 False ENSG00000102104 ENSG00000102104 HGNC:10457 RSPH4A gene RSPH4A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary False 3 0;0;0 0.278 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary False 3 0;0;0 0.278 False ENSG00000172426 ENSG00000172426 HGNC:21057 RUNX2 gene RUNX2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysostosis False 3 0;0;0 0.278 False ENSG00000124813 ENSG00000124813 HGNC:10472 RYR1 gene RYR1 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Malignant hyperthermia, multiminicore disease MIM#180901 False 3 100;0;0 0.278 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic;Arrhythmogenic right ventricular dysplasia 2 False 3 0;0;0 0.278 False ENSG00000198626 ENSG00000198626 HGNC:10484 SACS gene SACS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia Charlevoix-Saguenay type False 3 0;0;0 0.278 False ENSG00000151835 ENSG00000151835 HGNC:10519 SALL1 gene SALL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome False 3 0;0;0 0.278 False ENSG00000103449 ENSG00000103449 HGNC:10524 SAMHD1 gene SAMHD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome False 3 0;0;0 0.278 False ENSG00000101347 ENSG00000101347 HGNC:15925 SBDS gene SBDS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Shwachman-Bodian-Diamond syndrome False 3 0;0;0 0.278 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCN11A gene SCN11A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic pain syndrome False 3 0;0;0 0.278 False ENSG00000168356 ENSG00000168356 HGNC:10583 SCN1A gene SCN1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dravet syndrome False 3 0;0;0 0.278 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCNN1A gene SCNN1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism False 3 0;0;0 0.278 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I MIM# 264350 False 3 100;0;0 0.278 True ENSG00000168447 ENSG00000168447 HGNC:10600 SCO2 gene SCO2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency False 3 0;0;0 0.278 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHD gene SDHD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 3 0;0;0 0.278 False ENSG00000204370 ENSG00000204370 HGNC:10683 SELENON gene SELENON BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fiber-type disproportion;Muscular dystrophy, rigid spine False 3 0;0;0 0.278 False ENSG00000162430 ENSG00000162430 HGNC:15999 SEPT9 gene SEPT9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic False 3 0;0;0 0.278 False ENSG00000184640 ENSG00000184640 HGNC:7323 SERPINA1 gene SERPINA1 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Antitrypsin alpha 1 deficiency;Emphysema due to AAT deficiency, OMIM #107400 False 3 100;0;0 0.278 True ENSG00000197249 ENSG00000197249 HGNC:8941 SETBP1 gene SETBP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schinzel-Giedion syndrome False 3 0;0;0 0.278 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETX gene SETX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-ocular apraxia 2 False 3 0;0;0 0.278 False ENSG00000107290 ENSG00000107290 HGNC:445 SFTPB gene SFTPB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary False 3 0;0;0 0.278 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620;Interstitial lung disease False 3 100;0;0 0.278 True ENSG00000168484 ENSG00000168484 HGNC:10802 SGCA gene SGCA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2D False 3 0;0;0 0.278 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2E False 3 0;0;0 0.278 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD BabySeq Category A gene;BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 False 3 100;0;0 0.278 True ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2C False 3 0;0;0 0.278 False ENSG00000102683 ENSG00000102683 HGNC:10809 SGSH gene SGSH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidisis type IIIA (Sanfilippo A) False 3 0;0;0 0.278 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH2D1A gene SH2D1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome False 3 0;0;0 0.278 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH3TC2 gene SH3TC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease False 3 0;0;0 0.278 False ENSG00000169247 ENSG00000169247 HGNC:29427 SHANK3 gene SHANK3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 30842224;16284256;17173049;20186804;22892527 False 3 100;0;0 0.278 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-3 False 3 0;0;0 0.278 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIL1 gene SIL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome False 3 0;0;0 0.278 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIX1 gene SIX1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome False 3 0;0;0 0.278 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX3 gene SIX3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-2 False 3 0;0;0 0.278 False ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome False 3 0;0;0 0.278 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC12A1 gene SLC12A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome False 3 0;0;0 0.278 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome False 3 0;0;0 0.278 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC12A6 gene SLC12A6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy False 3 0;0;0 0.278 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC16A2 gene SLC16A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome False 3 0;0;0 0.278 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile False 3 0;0;0 0.278 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A2 gene SLC19A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome False 3 0;0;0 0.278 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Basal ganglia disease, biotin-responsive False 3 0;0;0 0.278 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary False 3 0;0;0 0.278 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia False 3 0;0;0 0.278 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome False 3 0;0;0 0.278 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A20 gene SLC25A20 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency False 3 0;0;0 0.278 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A38 gene SLC25A38 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive False 3 0;0;0 0.278 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia False 3 0;0;0 0.278 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC26A2 gene SLC26A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis 1B False 3 0;0;0 0.278 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Chloride diarrhea, congenital, Finnish type False 3 0;0;0 0.278 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC26A4 gene SLC26A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pendred syndrome False 3 0;0;0 0.278 False ENSG00000091137 ENSG00000091137 HGNC:8818 SLC27A4 gene SLC27A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome False 3 0;0;0 0.278 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLC2A1 gene SLC2A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GLUT1 deficiency syndrome 1 False 3 0;0;0 0.278 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A10 gene SLC2A10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome False 3 0;0;0 0.278 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC34A2 gene SLC34A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis False 3 0;0;0 0.278 False ENSG00000157765 ENSG00000157765 HGNC:11020 SLC34A3 gene SLC34A3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria False 3 0;0;0 0.278 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35D1 gene SLC35D1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia False 3 0;0;0 0.278 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib False 3 0;0;0 0.278 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A4 gene SLC39A4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica False 3 0;0;0 0.278 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC3A1 gene SLC3A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cystinuria False 3 0;0;0 0.278 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC45A2 gene SLC45A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, type IV False 3 0;0;0 0.278 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLC46A1 gene SLC46A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary False 3 0;0;0 0.278 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spherocytosis False 3 0;0;0 0.278 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A11 gene SLC4A11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Corneal endothelial dystrophy False 3 0;0;0 0.278 False ENSG00000088836 ENSG00000088836 HGNC:16438 SLC5A2 gene SLC5A2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Renal glucosuria False 3 0;0;0 0.278 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC5A5 gene SLC5A5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1 False 3 0;0;0 0.278 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC6A19 gene SLC6A19 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, MIM # 234500 False 3 100;0;0 0.278 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A5 gene SLC6A5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3 False 3 0;0;0 0.278 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Creatine deficiency syndrome, X-linked False 3 0;0;0 0.278 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance False 3 0;0;0 0.278 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cystinuria False 3 0;0;0 0.278 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A6 gene SLC9A6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Christianson syndrome False 3 0;0;0 0.278 False ENSG00000198689 ENSG00000198689 HGNC:11079 SLCO2A1 gene SLCO2A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100;Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 23509104;27134495;33852188;22331663;27134495 False 3 100;0;0 0.278 True ENSG00000174640 ENSG00000174640 HGNC:10955 SMAD3 gene SMAD3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome False 3 0;0;0 0.278 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis syndrome False 3 0;0;0 0.278 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCAL1 gene SMARCAL1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia False 3 0;0;0 0.278 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome False 3 0;0;0 0.278 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMN1 gene SMN1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy False 3 0;0;0 0.278 False ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD1 gene SMPD1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A;Niemann-Pick disease, type B False 3 0;0;0 0.278 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMPX gene SMPX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked False 3 0;0;0 0.278 False ENSG00000091482 ENSG00000091482 HGNC:11122 SOX10 gene SOX10 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shah-Waardenburg syndrome False 3 0;0;0 0.278 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX9 gene SOX9 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia False 3 0;0;0 0.278 False ENSG00000125398 ENSG00000125398 HGNC:11204 SP110 gene SP110 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency False 3 0;0;0 0.278 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPEG gene SPEG BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 25087613;31625632;30412272;30157964;29614691;29474540;28624463;26578207;25087613 False 3 100;0;0 0.278 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPINK5 gene SPINK5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Netherton syndrome 1;Netherton syndrome False 3 0;0;0 0.278 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPR gene SPR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sepiapterin reductase deficiency False 3 0;0;0 0.278 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPRED1 gene SPRED1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome False 3 0;0;0 0.278 False ENSG00000166068 ENSG00000166068 HGNC:20249 SPTA1 gene SPTA1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Elliptocytosis False 3 0;0;0 0.278 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spherocytosis False 3 0;0;0 0.278 False ENSG00000070182 ENSG00000070182 HGNC:11274 SPTLC1 gene SPTLC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IA False 3 0;0;0 0.278 False ENSG00000090054 ENSG00000090054 HGNC:11277 SRCAP gene SRCAP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome False 3 0;0;0 0.278 False ENSG00000080603 ENSG00000080603 HGNC:16974 STAC3 gene STAC3 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, MIM# 255995 23736855;28411587;28777491;30168660 False 3 100;0;0 0.278 True ENSG00000185482 ENSG00000185482 HGNC:28423 STAR gene STAR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Congenital lipoid adrenal hyperplasia, False 3 0;0;0 0.278 False ENSG00000147465 ENSG00000147465 HGNC:11359 STAT3 gene STAT3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome False 3 0;0;0 0.278 False ENSG00000168610 ENSG00000168610 HGNC:11364 STK11 gene STK11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome False 3 0;0;0 0.278 False ENSG00000118046 ENSG00000118046 HGNC:11389 STRA6 gene STRA6 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic False 3 0;0;0 0.278 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRC gene STRC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000242866 ENSG00000242866 HGNC:16035 STS gene STS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis, X-linked False 3 0;0;0 0.278 False ENSG00000101846 ENSG00000101846 HGNC:11425 STX11 gene STX11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4 False 3 0;0;0 0.278 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP1 gene STXBP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile False 3 0;0;0 0.278 False ENSG00000136854 ENSG00000136854 HGNC:11444 STXBP2 gene STXBP2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis False 3 0;0;0 0.278 False ENSG00000076944 ENSG00000076944 HGNC:11445 SUCLA2 gene SUCLA2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) False 3 0;0;0 0.278 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) False 3 0;0;0 0.278 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUOX gene SUOX BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Sulphite oxidase deficiency False 3 0;0;0 0.278 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX deficiency False 3 0;0;0 0.278 False ENSG00000148290 ENSG00000148290 HGNC:11474 TAT gene TAT BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II False 3 0;0;0 0.278 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome False 3 0;0;0 0.278 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D24 gene TBC1D24 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome False 3 0;0;0 0.278 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBX1 gene TBX1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome False 3 0;0;0 0.278 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX5 gene TBX5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome False 3 0;0;0 0.278 False ENSG00000089225 ENSG00000089225 HGNC:11604 TCIRG1 gene TCIRG1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, infantile malignant False 3 0;0;0 0.278 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCOF1 gene TCOF1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1 False 3 0;0;0 0.278 False ENSG00000070814 ENSG00000070814 HGNC:11654 TECTA gene TECTA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness False 3 0;0;0 0.278 False ENSG00000109927 ENSG00000109927 HGNC:11720 TFAP2A gene TFAP2A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome False 3 0;0;0 0.278 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome False 3 0;0;0 0.278 False ENSG00000008196 ENSG00000008196 HGNC:11743 TFG gene TFG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy False 3 0;0;0 0.278 False ENSG00000114354 ENSG00000114354 HGNC:11758 TG gene TG BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3 False 3 0;0;0 0.278 False ENSG00000042832 ENSG00000042832 HGNC:11764 TGFBR1 gene TGFBR1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome False 3 0;0;0 0.278 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome False 3 0;0;0 0.278 False ENSG00000163513 ENSG00000163513 HGNC:11773 TGM1 gene TGM1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive False 3 0;0;0 0.278 False ENSG00000092295 ENSG00000092295 HGNC:11777 TGM5 gene TGM5 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome, acral type False 3 0;0;0 0.278 False ENSG00000104055 ENSG00000104055 HGNC:11781 TH gene TH BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Tyrosine hydroxylase deficiency False 3 0;0;0 0.278 False ENSG00000180176 ENSG00000180176 HGNC:11782 THRA gene THRA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, nongoitrous, 6 False 3 0;0;0 0.278 False ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid hormone resistance False 3 0;0;0 0.278 False ENSG00000151090 ENSG00000151090 HGNC:11799 TIMM8A gene TIMM8A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome False 3 0;0;0 0.278 False ENSG00000126953 ENSG00000126953 HGNC:11817 TK2 gene TK2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome False 3 0;0;0 0.278 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMC1 gene TMC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness False 3 0;0;0 0.278 False ENSG00000165091 ENSG00000165091 HGNC:16513 TMEM43 gene TMEM43 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5 False 3 0;0;0 0.278 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM67 gene TMEM67 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome False 3 0;0;0 0.278 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMIE gene TMIE BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000160183 ENSG00000160183 HGNC:11877 TNFRSF11B gene TNFRSF11B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Paget disease False 3 0;0;0 0.278 False ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 False 3 0;0;0 0.278 False ENSG00000120659 ENSG00000120659 HGNC:11926 TNNI2 gene TNNI2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Distal arthrogryposis syndrome 2b False 3 0;0;0 0.278 False ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy, Amish type False 3 0;0;0 0.278 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthyrgryposis, distal False 3 0;0;0 0.278 False ENSG00000130595 ENSG00000130595 HGNC:11950 TP53 gene TP53 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome False 3 0;0;0 0.278 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPM2 gene TPM2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy;Arthrogryposis multiplex congenita, distal False 3 0;0;0 0.278 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy;Congenital fiber-type disproportion myopathy False 3 0;0;0 0.278 False ENSG00000143549 ENSG00000143549 HGNC:12012 TPO gene TPO BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A False 3 0;0;0 0.278 False ENSG00000115705 ENSG00000115705 HGNC:12015 TPP1 gene TPP1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Neuronal ceroid lipofuscinosis False 3 0;0;0 0.278 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAPPC2 gene TRAPPC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda False 3 0;0;0 0.278 False ENSG00000196459 ENSG00000196459 HGNC:23068 TREX1 gene TREX1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1 False 3 0;0;0 0.278 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM32 gene TRIM32 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H False 3 0;0;0 0.278 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism syndrome False 3 0;0;0 0.278 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIOBP gene TRIOBP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 3 0;0;0 0.278 False ENSG00000100106 ENSG00000100106 HGNC:17009 TRMU gene TRMU BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile False 3 0;0;0 0.278 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRPM4 gene TRPM4 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac conduction disease False 3 0;0;0 0.278 False ENSG00000130529 ENSG00000130529 HGNC:17993 TSC1 gene TSC1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 1 False 3 0;0;0 0.278 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 2 False 3 0;0;0 0.278 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 4 False 3 0;0;0 0.278 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSHB gene TSHB BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypothryoidism, congenital, nongoitrous 4 False 3 0;0;0 0.278 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hypothyroidism False 3 0;0;0 0.278 False ENSG00000165409 ENSG00000165409 HGNC:12373 TTC21B gene TTC21B BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 21258341;25492405;18327258;33875766 False 3 100;0;0 0.278 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC37 gene TTC37 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome False 3 0;0;0 0.278 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, combined, with intestinal atresias False 3 0;0;0 0.278 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTPA gene TTPA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency False 3 0;0;0 0.278 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related False 3 0;0;0 0.278 False ENSG00000118271 ENSG00000118271 HGNC:12405 TWIST1 gene TWIST1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Saethre-Chotzen syndrome False 3 0;0;0 0.278 False ENSG00000122691 ENSG00000122691 HGNC:12428 TWNK gene TWNK BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia infantile-onset False 3 0;0;0 0.278 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome False 3 0;0;0 0.278 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous 1 False 3 0;0;0 0.278 False ENSG00000077498 ENSG00000077498 HGNC:12442 UBR1 gene UBR1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome False 3 0;0;0 0.278 False ENSG00000159459 ENSG00000159459 HGNC:16808 UGT1A1 gene UGT1A1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome False 3 0;0;0 0.278 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy False 3 0;0;0 0.278 False ENSG00000169344 ENSG00000169344 HGNC:12559 UNC13D gene UNC13D BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3 False 3 0;0;0 0.278 False ENSG00000092929 ENSG00000092929 HGNC:23147 UROD gene UROD BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, hepatoerythropoietic False 3 0;0;0 0.278 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic False 3 0;0;0 0.278 False ENSG00000188690 ENSG00000188690 HGNC:12592 USH1C gene USH1C BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome 1 False 3 0;0;0 0.278 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome 1 False 3 0;0;0 0.278 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome 2 False 3 0;0;0 0.278 False ENSG00000042781 ENSG00000042781 HGNC:12601 VCAN gene VCAN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wagner syndrome False 3 0;0;0 0.278 False ENSG00000038427 ENSG00000038427 HGNC:2464 VCP gene VCP BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset paget disease and frontotemporal dementia False 3 0;0;0 0.278 False ENSG00000165280 ENSG00000165280 HGNC:12666 VDR gene VDR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets False 3 0;0;0 0.278 False ENSG00000111424 ENSG00000111424 HGNC:12679 VHL gene VHL BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Hippel-Lindau syndrome False 3 0;0;0 0.278 False ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction and cholestasis False 3 0;0;0 0.278 False ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 False 3 0;0;0 0.278 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13A gene VPS13A BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis False 3 0;0;0 0.278 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13B gene VPS13B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Cohen syndrome False 3 0;0;0 0.278 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33B gene VPS33B BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis renal dysfunction cholestasis syndrome False 3 0;0;0 0.278 False ENSG00000184056 ENSG00000184056 HGNC:12712 WAS gene WAS BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome False 3 0;0;0 0.278 False ENSG00000015285 ENSG00000015285 HGNC:12731 WDR62 gene WDR62 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations False 3 0;0;0 0.278 False ENSG00000075702 ENSG00000075702 HGNC:24502 WFS1 gene WFS1 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome False 3 0;0;0 0.278 False ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, MIM# 611383;Deafness, autosomal recessive 31, MIM# 607084 17171570;21738389;22147658;26338283;12833159;20502675;28254438;27117407;12833159;29270100;15841483 False 3 100;0;0 0.278 True ENSG00000095397 ENSG00000095397 HGNC:16361 WRAP53 gene WRAP53 BabySeq Category C gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 21205863;32303682;29514627 False 3 100;0;0 0.278 True ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Werner syndrome False 3 0;0;0 0.278 False ENSG00000165392 ENSG00000165392 HGNC:12791 XPA gene XPA BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 3 0;0;0 0.278 False ENSG00000154767 ENSG00000154767 HGNC:12816 ZAP70 gene ZAP70 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal ZAP70-related severe combined immunodeficiency False 3 0;0;0 0.278 False ENSG00000115085 ENSG00000115085 HGNC:12858 ZEB2 gene ZEB2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome False 3 0;0;0 0.278 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZIC2 gene ZIC2 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-5 False 3 0;0;0 0.278 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Heterotaxy False 3 0;0;0 0.278 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMPSTE24 gene ZMPSTE24 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Restrictive dermopathy False 3 0;0;0 0.278 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF469 gene ZNF469 BabySeq Category A gene;Expert Review Green Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome False 3 0;0;0 0.278 False ENSG00000225614 ENSG00000225614 HGNC:23216