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 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Triple-A syndrome, MONDO:0009279;Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 False 1 0;0;100 1.482 True ENSG00000094914 ENSG00000094914 HGNC:13666 AASS gene AASS Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia (disease), MONDO:0009388;Hyperlysinemia, OMIM:238700 False 1 0;0;100 1.482 True ENSG00000008311 ENSG00000008311 HGNC:17366 ABCB11 gene ABCB11 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR False 1 0;0;100 1.482 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB7 gene ABCB7 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, with ataxia, MIM# 301310 False 1 0;0;100 1.482 True ENSG00000131269 ENSG00000131269 HGNC:48 ABCC8 gene ABCC8 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857 False 1 0;0;100 1.482 True ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, MIM# 300100 False 1 0;0;100 1.482 True ENSG00000101986 ENSG00000101986 HGNC:61 ACADM gene ACADM Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 False 1 0;0;100 1.482 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 False 1 0;0;100 1.482 True ENSG00000122971 ENSG00000122971 HGNC:90 ACAT1 gene ACAT1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM# 203750 False 1 0;0;100 1.482 True ENSG00000075239 ENSG00000075239 HGNC:93 ACBD5 gene ACBD5 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy - MIM#618863 27799409;23105016;33427402;34668366 False 1 0;0;100 1.482 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACVR2B gene ACVR2B Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 4, autosomal 613751 9916847;30622330;21864452 False 1 0;0;100 1.482 True ENSG00000114739 ENSG00000114739 HGNC:174 ADA gene ADA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064 False 1 0;0;100 1.482 True ENSG00000196839 ENSG00000196839 HGNC:186 ADAMTS9 gene ADAMTS9 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related 30609407 False 1 0;0;100 1.482 True ENSG00000163638 ENSG00000163638 HGNC:13202 ADAR gene ADAR Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM# 615010 False 1 0;0;100 1.482 True ENSG00000160710 ENSG00000160710 HGNC:225 ADD3 gene ADD3 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebral palsy, spastic quadriplegic, 3 MIM#617008 23836506;29768408 False 1 0;0;100 1.482 True ENSG00000148700 ENSG00000148700 HGNC:245 AFF2 gene AFF2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, FRAXE type 309548 8334699;21739600;22773736 False 1 0;0;100 1.482 True ENSG00000155966 ENSG00000155966 HGNC:3776 AGA gene AGA Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM#208400 1703489;1904874;8064811;8946839 False 1 0;0;100 1.482 True ENSG00000038002 ENSG00000038002 HGNC:318 AGL gene AGL Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, MIM# 232400 False 1 0;0;100 1.482 True ENSG00000162688 ENSG00000162688 HGNC:321 AGMO gene AGMO Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, AGMO-related MONDO#0700092 31555905;27000257 False 1 0;0;100 1.482 True ENSG00000187546 ENSG00000187546 HGNC:33784 AGPAT2 gene AGPAT2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, MIM# 608594 22902344;11967537 False 1 0;0;100 1.482 True ENSG00000169692 ENSG00000169692 HGNC:325 AGXT gene AGXT Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823 2039493;19479957 False 1 0;0;100 1.482 True ENSG00000172482 ENSG00000172482 HGNC:341 AIPL1 gene AIPL1 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Cone-rod dystrophy, 604393;Retinitis pigmentosa, juvenile, 604393 10615133 False 1 0;0;100 1.482 True ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 False 1 0;0;100 1.482 True ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, MIM# 267500;MONDO:0009973 19043416;19043417 False 1 0;0;100 1.482 True ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, MIM# 235555 12970144;20522910 False 1 0;0;100 1.482 True ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic , MIM#612740 False 1 0;0;100 1.482 True ENSG00000148218 ENSG00000148218 HGNC:395 ALDH1B1 gene ALDH1B1 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related 40988636 False 1 0;0;100 1.482 True ENSG00000137124 ENSG00000137124 HGNC:407 ALDH3A2 gene ALDH3A2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200;spasticity;ichthyosis;intellectual disability 31273323 False 1 0;0;100 1.482 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperprolinaemia, type II, MIM# 239510 False 1 0;0;100 1.482 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 14635103 False 1 0;0;100 1.482 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM# 266100 False 1 0;0;100 1.482 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, MIM#611881 False 1 0;0;100 1.482 True ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM#229600 False 1 0;0;100 1.482 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG2 gene ALG2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 23404334;24461433;12684507 False 1 0;0;100 1.482 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALOX12B gene ALOX12B Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, MIM#242100 16116617;11773004 False 1 0;0;100 1.482 True ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, MIM#606545 16116617;31046801;26370990 False 1 0;0;100 1.482 True ENSG00000179148 ENSG00000179148 HGNC:13743 ALS2 gene ALS2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paralysis, infantile onset ascending, MIM#607225 False 1 0;0;100 1.482 True ENSG00000003393 ENSG00000003393 HGNC:443 AMACR gene AMACR Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950 31951345;24735479;12512044;10655068 False 1 0;0;100 1.482 True ENSG00000242110 ENSG00000242110 HGNC:451 AMMECR1 gene AMMECR1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 27811305;28089922;29193635 False 1 0;0;100 1.482 True ENSG00000101935 ENSG00000101935 HGNC:467 AMOT gene AMOT Expert Review Red;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital hydrocephalus MONDO:0016349, AMOT-related 40892511 False 1 0;50;50 1.482 True ENSG00000126016 ENSG00000126016 HGNC:17810 ANKRD26 gene ANKRD26 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia 2, MIM# 188000 21211618 False 1 0;0;100 1.482 True ENSG00000107890 ENSG00000107890 HGNC:29186 ANO5 gene ANO5 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gnathodiaphyseal dysplasia, MIM# 166260;Miyoshi muscular dystrophy 3, MIM# 613319;Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307 False 1 0;0;100 1.482 True ENSG00000171714 ENSG00000171714 HGNC:27337 AP3B1 gene AP3B1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 10024875;11809908;14566336 False 1 0;0;100 1.482 True ENSG00000132842 ENSG00000132842 HGNC:566 APOPT1 gene APOPT1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 25175347 False 1 0;0;100 1.482 True ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 False 1 0;0;100 1.482 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARG1 gene ARG1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Argininaemia, MIM# 207800 False 1 0;0;100 1.482 True ENSG00000118520 ENSG00000118520 HGNC:663 ARPC4 gene ARPC4 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, ARPC4-related MONDO#0700092 35047857 False 1 0;0;100 1.482 True ENSG00000241553 ENSG00000241553 HGNC:707 ARSA gene ARSA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100 False 1 0;0;100 1.482 True ENSG00000100299 ENSG00000100299 HGNC:713 ASL gene ASL Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, MIM#207900 False 1 0;0;100 1.482 True ENSG00000126522 ENSG00000126522 HGNC:746 ASS1 gene ASS1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Citrullinemia, MIM# 215700 False 1 0;0;100 1.482 True ENSG00000130707 ENSG00000130707 HGNC:758 ATM gene ATM Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM# 208900 False 1 0;0;100 1.482 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, MIM# 606693;Spastic paraplegia 78, autosomal recessive, MIM# 617225 False 1 0;0;100 1.482 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP6V1B1 gene ATP6V1B1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 False 1 0;0;100 1.482 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP8B1 gene ATP8B1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, MIM# 211600 False 1 0;0;100 1.482 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATRIP gene ATRIP Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seckel Syndrome 23144622 False 1 0;0;100 1.482 True ENSG00000164053 ENSG00000164053 HGNC:33499 AUH gene AUH Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 False 1 0;0;100 1.482 True ENSG00000148090 ENSG00000148090 HGNC:890 BANF1 gene BANF1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nestor-Guillermo progeria syndrome, MIM# 614008 32783369;21549337 False 1 0;0;100 1.482 True ENSG00000175334 ENSG00000175334 HGNC:17397 BCKDHA gene BCKDHA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 False 1 0;0;100 1.482 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, MIM# 248600 False 1 0;0;100 1.482 True ENSG00000083123 ENSG00000083123 HGNC:987 BGN gene BGN Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 27236923 False 1 0;0;100 1.482 True ENSG00000182492 ENSG00000182492 HGNC:1044 BLOC1S6 gene BLOC1S6 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 9, MIM# 614171 22461475;21665000;32245340 False 1 0;0;100 1.482 True ENSG00000104164 ENSG00000104164 HGNC:8549 BMPR2 gene BMPR2 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Persistent pulmonary hypertension of the neonate;Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600;Pulmonary venoocclusive disease 1-#265450 31382961 False 1 0;50;50 1.482 True ENSG00000204217 ENSG00000204217 HGNC:1078 BRWD1 gene BRWD1 Expert list;Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Situs inversus;Ciliary dyskinesia, primary, 51, MIM# 620438 33389130 False 1 0;50;50 1.482 True ENSG00000185658 ENSG00000185658 HGNC:12760 BTD gene BTD Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, MIM# 253260 False 1 0;0;100 1.482 True ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, MIM# 613559;Spastic paraplegia 55, autosomal recessive, MIM# 615035 32478789 False 1 0;0;100 1.482 True ENSG00000130921 ENSG00000130921 HGNC:26784 CA5A gene CA5A Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 26913920 False 1 0;0;100 1.482 True ENSG00000174990 ENSG00000174990 HGNC:1377 CA8 gene CA8 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 21937992;19461874 False 1 0;0;100 1.482 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developemental and epileptic encephalopathy 42, MIM# 617106;Episodic ataxia, type 2, MIM# 108500;Migraine, familial hemiplegic, 1, MIM# 141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500;Spinocerebellar ataxia 6, MIM# 183086 False 1 0;0;100 1.482 True ENSG00000141837 ENSG00000141837 HGNC:1388 CAD gene CAD Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457 25678555;28007989;30914295 False 1 0;0;100 1.482 True ENSG00000084774 ENSG00000084774 HGNC:1424 CALCRL gene CALCRL Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 8, MONDO:0032907;Lymphatic malformation 8, OMIM:618773;Hydrops fetalis 16537897;30115739 False 1 0;0;100 1.482 True ENSG00000064989 ENSG00000064989 HGNC:16709 CAMK2A gene CAMK2A Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mental retardation, autosomal recessive 63 MIM#618095;Mental retardation, autosomal dominant 53 MIM#617798 32600977;29784083;29560374 False 1 0;0;100 1.482 True ENSG00000070808 ENSG00000070808 HGNC:1460 CAMTA1 gene CAMTA1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) 32157189;22693284 False 1 50;0;50 1.482 True ENSG00000171735 ENSG00000171735 HGNC:18806 CARS2 gene CARS2 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, MIM#616672 30139652;25787132 False 1 0;0;100 1.482 True ENSG00000134905 ENSG00000134905 HGNC:25695 CASR gene CASR Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperparathyroidism, neonatal, MIM# 239200 False 1 0;0;100 1.482 True ENSG00000036828 ENSG00000036828 HGNC:1514 CAVIN1 gene CAVIN1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 , MIM# 613327 False 1 0;0;100 1.482 True ENSG00000177469 ENSG00000177469 HGNC:9688 CBS gene CBS Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200 False 1 0;0;100 1.482 True ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D1A gene CC2D1A Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 3, MIM# 608443 25066123 False 1 50;0;50 1.482 True ENSG00000132024 ENSG00000132024 HGNC:30237 CCDC115 gene CCDC115 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo, MIM# 616828 26833332 False 1 50;0;50 1.482 True ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC65 gene CCDC65 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, MIM# 615504 30166424;23991085;24094744 False 1 0;0;100 1.482 True ENSG00000139537 ENSG00000139537 HGNC:29937 CCDC78 gene CCDC78 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 4, MIM#614807 22818856 False 1 0;0;100 1.482 True ENSG00000162004 ENSG00000162004 HGNC:14153 CCNO gene CCNO Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29 615872 30166424;24747639;24824133;31765523 False 1 0;0;100 1.482 True ENSG00000152669 ENSG00000152669 HGNC:18576 CD151 gene CD151 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 15265795;29138120 False 1 0;0;100 1.482 True ENSG00000177697 ENSG00000177697 HGNC:1630 CD96 gene CD96 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 17847009 False 1 0;0;100 1.482 True ENSG00000153283 ENSG00000153283 HGNC:16892 CDC6 gene CDC6 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5 (MIM#613805) 21358632 False 1 0;0;100 1.482 True ENSG00000094804 ENSG00000094804 HGNC:1744 CDCA8 gene CDCA8 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism, thyroid dysgenesis, no OMIM # 28025328;29546359 False 1 50;0;50 1.482 True ENSG00000134690 ENSG00000134690 HGNC:14629 CENPE gene CENPE Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 13, primary, autosomal recessive (MIM#616051) 24748105;30086807 False 1 0;0;100 1.482 True ENSG00000138778 ENSG00000138778 HGNC:1856 CERS3 gene CERS3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9, MIM# 615023 23754960;23549421;31168818;30578701 False 1 0;0;100 1.482 True ENSG00000154227 ENSG00000154227 HGNC:23752 CFAP43 gene CFAP43 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hydrocephalus, normal pressure, 1 236690;Spermatogenic failure 19 617592 31884020;28552195;31004071;29449551 False 1 0;0;100 1.482 True ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP57 gene CFAP57 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Van der Woude syndrome;primary ciliary dyskinesia like 21574244;32764743 False 1 0;0;100 1.482 True ENSG00000243710 ENSG00000243710 HGNC:26485 CFAP74 gene CFAP74 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal infertility;primary ciliary dyskinesia 32555313 False 1 0;0;100 1.482 True ENSG00000142609 ENSG00000142609 HGNC:29368 CFL2 gene CFL2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, MONDO:0012538;Nemaline myopathy 7, autosomal recessive, OMIM:610687 17160903;22560515;32697999;29457652;24610938 False 1 0;0;100 1.482 True ENSG00000165410 ENSG00000165410 HGNC:1875 CHD2 gene CHD2 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 94, MIM# 615369 False 1 0;0;100 1.482 True ENSG00000173575 ENSG00000173575 HGNC:1917 CHKA gene CHKA Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 35202461 False 1 0;0;100 1.482 True ENSG00000110721 ENSG00000110721 HGNC:1937 CHRDL1 gene CHRDL1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Megalocornea 1, X-linked, MIM# 309300 False 1 0;0;100 1.482 True ENSG00000101938 ENSG00000101938 HGNC:29861 CNBP gene CNBP Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, MIM#602668 False 1 0;0;100 1.482 True ENSG00000169714 ENSG00000169714 HGNC:13164 CNKSR2 gene CNKSR2 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 34266427 False 1 0;0;100 1.482 True ENSG00000149970 ENSG00000149970 HGNC:19701 COL4A3BP gene COL4A3BP Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) 25533962 False 1 0;0;100 1.482 True ENSG00000113163 ENSG00000113163 HGNC:2205 COLQ gene COLQ Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, MIM#603034 9689136;9758617;11865139;32978031;31831253 False 1 0;0;100 1.482 True ENSG00000206561 ENSG00000206561 HGNC:2226 COPB1 gene COPB1 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts False 1 0;0;100 1.482 True ENSG00000129083 ENSG00000129083 HGNC:2231 COPB2 gene COPB2 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microcephaly 19, primary, autosomal recessive, MIM# 617800 29036432;34450031 False 1 0;0;100 1.482 True ENSG00000184432 ENSG00000184432 HGNC:2232 COX6B1 gene COX6B1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 24781756;18499082 False 1 0;0;100 1.482 True ENSG00000126267 ENSG00000126267 HGNC:2280 CPS1 gene CPS1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency MIM#237300 8486760;17310273;21120950 False 1 0;0;100 1.482 True ENSG00000021826 ENSG00000021826 HGNC:2323 CSTA gene CSTA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 4, MIM# 607936 False 1 0;0;100 1.482 True ENSG00000121552 ENSG00000121552 HGNC:2481 CSTB gene CSTB Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 9012407;9054946 False 1 0;0;100 1.482 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTNS gene CTNS Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900;Cystinosis, nephropathic MIM#219800;Cystinosis, ocular nonnephropathic MIM#219750 32564281;20301574;9537412;31068690 False 1 0;0;100 1.482 True ENSG00000040531 ENSG00000040531 HGNC:2518 CUX2 gene CUX2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 67, MIM#618141 29630738;29795476 False 1 0;0;100 1.482 True ENSG00000111249 ENSG00000111249 HGNC:19347 CYC1 gene CYC1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 23910460 False 1 0;0;100 1.482 True ENSG00000179091 ENSG00000179091 HGNC:2579 CYP19A1 gene CYP19A1 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aromatase deficiency (MIM#613546), AR;Aromatase excess syndrome (MIM#139300), AD 17164303;25264451 False 1 0;0;100 1.482 True ENSG00000137869 ENSG00000137869 HGNC:2594 CYP2U1 gene CYP2U1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, MIM#615030 False 1 0;0;100 1.482 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP4F22 gene CYP4F22 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 False 1 0;0;100 1.482 True ENSG00000171954 ENSG00000171954 HGNC:26820 DARS2 gene DARS2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 17384640;15002045;16788019;30352563 False 1 0;0;100 1.482 True ENSG00000117593 ENSG00000117593 HGNC:25538 DBT gene DBT Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II (MIM#248600) 9239422;10915611;20570198 False 1 0;0;100 1.482 True ENSG00000137992 ENSG00000137992 HGNC:2698 DDB2 gene DDB2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740 33544716;32457468;32239545;32228487 False 1 0;0;100 1.482 True ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 20505134, 33528536;30799092;33996177 False 1 0;0;100 1.482 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive, 609340;MONDO:0012256 23176821 False 1 0;0;100 1.482 True ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, MIM# 615033;MONDO:0014018 23486545;24482476;23176823;31302745 False 1 0;0;100 1.482 True ENSG00000085788 ENSG00000085788 HGNC:29106 DDOST gene DDOST Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 22305527 False 1 0;0;100 1.482 True ENSG00000244038 ENSG00000244038 HGNC:2728 DHDDS gene DHDDS Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and seizures with or without movement abnormalities, MIM#617836 29100083 False 1 0;0;100 1.482 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 21310276;21310277 False 1 0;0;100 1.482 True ENSG00000228716 ENSG00000228716 HGNC:2861 DHH gene DHH Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080 31018998;29471294;11017805 False 1 0;0;100 1.482 True ENSG00000139549 ENSG00000139549 HGNC:2865 DHX30 gene DHX30 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 29100085 False 1 0;0;100 1.482 True ENSG00000132153 ENSG00000132153 HGNC:16716 DLAT gene DLAT Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, MIM#245348 16049940;29093066 False 1 0;0;100 1.482 True ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency MIM#246900 3769994;8506365;9934985;17404228;21558426;21930696 False 1 0;0;100 1.482 True ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 90, MIM#300850 28777483;24721225 False 1 0;0;100 1.482 True ENSG00000082458 ENSG00000082458 HGNC:2902 DLG4 gene DLG4 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder 62, MIM# 618793" 27479843;25123844;19617690;29460436;23020937;28135719;33597769 False 1 50;0;50 1.482 True ENSG00000132535 ENSG00000132535 HGNC:2903 DMP1 gene DMP1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR MIM#241520 17033625;17033621, 31843680 False 1 0;0;100 1.482 True ENSG00000152592 ENSG00000152592 HGNC:2932 DNAH2 gene DNAH2 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops;complex congenital heart disease;heterotaxy 32732226 False 1 0;0;100 1.482 True ENSG00000183914 ENSG00000183914 HGNC:2948 DNAH6 gene DNAH6 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy 26918822 False 1 0;50;50 1.482 True ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH8 gene DNAH8 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related 24307375 False 1 0;0;100 1.482 True ENSG00000124721 ENSG00000124721 HGNC:2952 DNAJB13 gene DNAJB13 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 31342671;27486783 False 1 0;0;100 1.482 True ENSG00000187726 ENSG00000187726 HGNC:30718 DNAJC12 gene DNAJC12 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 False 1 0;0;100 1.482 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNM1 gene DNM1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346;Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 25262651;27066543;33372033;34172529 False 1 0;0;100 1.482 True ENSG00000106976 ENSG00000106976 HGNC:2972 DNM2 gene DNM2 Expert Review;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 5, MIM#615368 PMID: 30208955 False 1 0;0;100 1.482 True ENSG00000079805 ENSG00000079805 HGNC:2974 DPM3 gene DPM3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 19576565;28803818;30931530;31469168 False 1 0;0;100 1.482 True ENSG00000179085 ENSG00000179085 HGNC:3007 DRC1 gene DRC1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, MIM# 615294 31960620;32108610 False 1 0;0;100 1.482 True ENSG00000157856 ENSG00000157856 HGNC:24245 DSTYK gene DSTYK Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital anomalies of kidney and urinary tract 1, MIM# 610805;Spastic paraplegia 23, MIM# 270750 28157540;23862974 False 1 0;50;50 1.482 True ENSG00000133059 ENSG00000133059 HGNC:29043 DUOX1 gene DUOX1 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # 29650690;34019632 False 1 0;50;50 1.482 True ENSG00000137857 ENSG00000137857 HGNC:3062 DUOX2 gene DUOX2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6 - MIM#607200 33692749;34019632;34341225;16134168 False 1 50;0;50 1.482 True ENSG00000140279 ENSG00000140279 HGNC:13273 DUOXA1 gene DUOXA1 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # 31428054;29650690 False 1 0;50;50 1.482 True ENSG00000140254 ENSG00000140254 HGNC:26507 DUOXA2 gene DUOXA2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, MIM# 274900 False 1 50;0;50 1.482 True ENSG00000140274 ENSG00000140274 HGNC:32698 DUSP6 gene DUSP6 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia 615269 23643382;32389901 False 1 0;0;100 1.482 True ENSG00000139318 ENSG00000139318 HGNC:3072 EEF1A2 gene EEF1A2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 38, MIM# 616393;MONDO:0014617;Developmental and epileptic encephalopathy 33, MIM# 616409;MONDO:0014625 24697219;32196822;32160274;32062104;31893083 False 1 0;0;100 1.482 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101210 ENSG00000101210 HGNC:3192 EFNA4 gene EFNA4 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 16540516;19201948;19772933;23983218;29168297;29215649;33065355;34586326;36140816 False 1 0;50;50 1.482 True ENSG00000243364 ENSG00000243364 HGNC:3224 EGR2 gene EGR2 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1D, MIM# 607678;Dejerine-Sottas disease, MIM# 145900;Hypomyelinating neuropathy, congenital, 1, MIM# 605253 False 1 0;0;100 1.482 True ENSG00000122877 ENSG00000122877 HGNC:3239 ELMO2 gene ELMO2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Vascular malformation, primary intraosseous, MIM# 606893" False 1 0;0;100 1.482 True ENSG00000062598 ENSG00000062598 HGNC:17233 EMD gene EMD Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked 310300 26247046;21697856;31802929;20301609 False 1 0;0;100 1.482 True ENSG00000102119 ENSG00000102119 HGNC:3331 ENO1 gene ENO1 Expert list;Expert Review Red Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria, MONDO:0000087, ENO1-related 32488097 False 1 0;0;100 1.482 True ENSG00000074800 ENSG00000074800 HGNC:3350 EOMES gene EOMES Expert list;Expert Review Red Fetal anomalies BIALLELIC, autosomal or pseudoautosomal microcephaly;polymicrogyria;corpus callosum agenesis 17353897 False 1 0;0;100 1.482 True ENSG00000163508 ENSG00000163508 HGNC:3372 ERMARD gene ERMARD Expert list;Expert Review Red Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6 (MIM#615544) 27087860;24056535 False 1 0;0;100 1.482 True ENSG00000130023 ENSG00000130023 HGNC:21056 ETHE1 gene ETHE1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, MIM# 602473 False 1 0;0;100 1.482 True ENSG00000105755 ENSG00000105755 HGNC:23287 ETV2 gene ETV2 Expert Review;Expert Review Red Fetal anomalies BIALLELIC, autosomal or pseudoautosomal multiple fetal anomalies;congenital heart disease MONDO:000545, ETV2-related;vertebral malformations 33359164 False 1 0;0;100 1.482 True ENSG00000105672 ENSG00000105672 HGNC:3491 EXPH5 gene EXPH5 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028 23176819;32176379;26211931;27384765;27730671 False 1 50;0;50 1.482 True ENSG00000110723 ENSG00000110723 HGNC:30578 FAH gene FAH Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, MIM#276700 15759101 False 1 50;0;50 1.482 True ENSG00000103876 ENSG00000103876 HGNC:3579 FANCM gene FANCM Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;100 1.482 True ENSG00000187790 ENSG00000187790 HGNC:23168 FAP gene FAP Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital pulmonary airway malformation MONDO:0016580 40949908 False 1 0;0;100 1.482 True ENSG00000078098 ENSG00000078098 HGNC:3590 FARS2 gene FARS2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, MIM#614946 28043061;29326872;27549011;29126765;27095821 False 1 0;0;100 1.482 True ENSG00000145982 ENSG00000145982 HGNC:21062 FBXO11 gene FBXO11 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089 30679813;30057029;29796876 False 1 50;0;50 1.482 True ENSG00000138081 ENSG00000138081 HGNC:13590 FDXR gene FDXR Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM# 617717 30250212;28965846 False 1 0;0;100 1.482 True ENSG00000161513 ENSG00000161513 HGNC:3642 FERMT3 gene FERMT3 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III - MIM#612840 31068971;34485203;33391282;31724816;30412664;25854317;28095295;26359933;25072369;22134107;20216991;19234463;19234460;18779414 False 1 0;0;100 1.482 True ENSG00000149781 ENSG00000149781 HGNC:23151 FEZF1 gene FEZF1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030" False 1 0;0;100 1.482 True ENSG00000128610 ENSG00000128610 HGNC:22788 FGF12 gene FGF12 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 47, MIM# 617166 32645220;27164707;27830185;27872899 False 1 0;0;100 1.482 True ENSG00000114279 ENSG00000114279 HGNC:3668 FGF17 gene FGF17 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 20 with or without anosmia 615270 31200363;31748124;23643382 False 1 0;0;100 1.482 True ENSG00000158815 ENSG00000158815 HGNC:3673 FLAD1 gene FLAD1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 False 1 0;0;100 1.482 True ENSG00000160688 ENSG00000160688 HGNC:24671 FLRT3 gene FLRT3 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) 23643382;31200363 False 1 0;0;100 1.482 True ENSG00000125848 ENSG00000125848 HGNC:3762 FMN2 gene FMN2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 47, MIM#616193 25480035;32162566;24161494 False 1 0;0;100 1.482 True ENSG00000155816 ENSG00000155816 HGNC:14074 FOLR1 gene FOLR1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 19732866;30420205;27743887 False 1 0;0;100 1.482 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXL2 gene FOXL2 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100) 31077882;18642388;17089161 False 1 0;0;100 1.482 True ENSG00000183770 ENSG00000183770 HGNC:1092 FOXP1 gene FOXP1 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation with language impairment and with or without autistic features, MIM# 613670 33461977;26633542;28741757 False 1 50;0;50 1.482 True ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1, MIM# 602081 15877281;15983371;27336128 False 1 0;0;100 1.482 True ENSG00000128573 ENSG00000128573 HGNC:13875 FOXR1 gene FOXR1 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Postnatal microcephaly, progressive brain atrophy and global developmental delay 34723967 False 1 0;50;50 1.482 True ENSG00000176302 ENSG00000176302 HGNC:29980 FRRS1L gene FRRS1L Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 37, MIM#616981 27236917;27239025 False 1 0;0;100 1.482 True ENSG00000260230 ENSG00000260230 HGNC:1362 FTSJ1 gene FTSJ1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 9, MIM# 309549" 15342698;18081026;15162322;26310293 False 1 0;0;100 1.482 True ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000 False 1 0;0;100 1.482 True ENSG00000179163 ENSG00000179163 HGNC:4006 G6PD gene G6PD Expert Review Red;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Haemolytic anaemia, G6PD deficient (300908) 1316704;26279483;18177777;17825683;1127504;7472841 False 1 0;0;100 1.482 True ENSG00000160211 ENSG00000160211 HGNC:4057 GABRA1 gene GABRA1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19 615744;Rett syndrome;Rett-like phenotypes;idiopathic generalized Epilepsy;Dravet syndrome 11992121;21714819;24623842;30842224 False 1 0;0;100 1.482 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB3 gene GABRB3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 43, MIM# 617113 23934111;27476654 False 1 0;0;100 1.482 True ENSG00000166206 ENSG00000166206 HGNC:4083 GABRG2 gene GABRG2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 618396;Epilepsy, generalized, with febrile seizures plus, type 3, 607681 11326274;11326275;27864268 False 1 0;0;100 1.482 True ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 False 1 0;0;100 1.482 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALT gene GALT Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM#230400 False 1 0;0;100 1.482 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 MIM#612736 False 1 0;0;100 1.482 True ENSG00000130005 ENSG00000130005 HGNC:4136 GANAB gene GANAB Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916;Polycystic kidney disease 3, OMIM:600666 False 1 0;50;50 1.482 True ENSG00000089597 ENSG00000089597 HGNC:4138 GAS2L2 gene GAS2L2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal ?Ciliary dyskinesia, primary, 41 - OMIM#618449 30665704 False 1 0;0;100 1.482 True ENSG00000132139 ENSG00000270765 HGNC:24846 GAS8 gene GAS8 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, MIM# 616726 30166424;19043402;26387594 False 1 0;0;100 1.482 True ENSG00000141013 ENSG00000141013 HGNC:4166 GATM gene GATM Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, MIM# 612718 12468279;20682460;22386973 False 1 0;0;100 1.482 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBA2 gene GBA2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM#614409 False 1 0;0;100 1.482 True ENSG00000070610 ENSG00000070610 HGNC:18986 GDF2 gene GDF2 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal hydrops;hydrothorax;Lymphatic dysplasia 32618121 False 1 0;0;100 1.482 True ENSG00000128802 ENSG00000263761 HGNC:4217 GDF3 gene GDF3 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia with coloboma 6, OMIM #613703;Microphthalmia, isolated 7, OMIM # 613704 PubMed: 19864492 False 1 50;0;50 1.482 True ENSG00000184344 ENSG00000184344 HGNC:4218 GDI1 gene GDI1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 41 MIM#300849 False 1 0;0;100 1.482 True ENSG00000203879 ENSG00000203879 HGNC:4226 GFPT1 gene GFPT1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542;Congenital myasthenic syndrome 12, MONDO:0012518 21310273;30635494 False 1 0;0;100 1.482 True ENSG00000198380 ENSG00000198380 HGNC:4241 GINS3 gene GINS3 Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome, MONDO:0016817, GINS3-related 35603789 False 1 100;0;0 1.482 False ENSG00000181938 ENSG00000181938 HGNC:25851 GK gene GK Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency MIM#307030 8651297 False 1 0;0;100 1.482 True ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500 20301469 False 1 0;0;100 1.482 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLMN gene GLMN Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomuvenous malformations MIM#138000 False 1 0;0;100 1.482 True ENSG00000174842 ENSG00000174842 HGNC:14373 GLUD1 gene GLUD1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM#606762 False 1 0;0;100 1.482 True ENSG00000148672 ENSG00000148672 HGNC:4335 GMPPA gene GMPPA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) 24035193;28574218 False 1 50;0;50 1.482 True ENSG00000144591 ENSG00000144591 HGNC:22923 GNA11 gene GNA11 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2 MIM#615361;Hypocalciuric hypercalcemia, type II MIM#145981;Congenital Haemangioma 23802536;23802516;24823460;26818911;27334330;34040639 False 1 0;50;50 1.482 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital vascular tumours False 1 0;0;100 1.482 True ENSG00000156049 ENSG00000156049 HGNC:4382 GNAI1 gene GNAI1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GNAI1 syndrome;Developmental delay, seizures, and hypotonia 28135719;33473207 False 1 50;0;50 1.482 True ENSG00000127955 ENSG00000127955 HGNC:4384 GNAQ gene GNAQ Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies Other Sturge-Weber syndrome, somatic, mosaic, MIM#185300 False 1 0;0;100 1.482 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNB5 gene GNB5 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953;Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173);Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) 27523599;27677260;28697420;29368331 False 1 0;0;100 1.482 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNPTG gene GNPTG Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605;MONDO:0009652 10712439;19370764;19659762;33507475;33023972;32651481 False 1 0;0;100 1.482 True ENSG00000090581 ENSG00000090581 HGNC:23026 GPAA1 gene GPAA1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 29100095 False 1 0;0;100 1.482 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPT2 gene GPT2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281 25758935;27601654;28130718;29226631;29882329;31471722 False 1 0;0;100 1.482 True ENSG00000166123 ENSG00000166123 HGNC:18062 GRIN2A gene GRIN2A Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 30544257 False 1 0;0;100 1.482 True Other ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2D gene GRIN2D Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 46, MIM# 617162;intellectual disability 27616483;30280376 False 1 0;0;100 1.482 True Other ENSG00000105464 ENSG00000105464 HGNC:4588 GRM1 gene GRM1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 13 MIM#614831 22901947;26308914 False 1 0;0;100 1.482 True ENSG00000152822 ENSG00000152822 HGNC:4593 GSPT2 gene GSPT2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability MONDO:0001071, GSPT2-related 28414775 False 1 0;0;100 1.482 True ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2E2 gene GTF2E2 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM #616943 28973399 False 1 0;50;50 1.482 True ENSG00000197265 ENSG00000197265 HGNC:4651 H19 gene H19 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome 130650;Silver-Russell syndrome 180860;Wilms tumor 2 194071 False 1 0;0;100 1.482 True Other ENSG00000130600 ENSG00000130600 HGNC:4713 HADH gene HADH Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 False 1 0;0;100 1.482 True ENSG00000138796 ENSG00000138796 HGNC:4799 HECW2 gene HECW2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268) 29807643;29395664;27334371;27389779 False 1 50;0;50 1.482 True Other ENSG00000138411 ENSG00000138411 HGNC:29853 HEXA gene HEXA Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease - MIM#272800 False 1 0;0;100 1.482 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800 23046579;24613245;33407268;27697305;11869411;33363784 False 1 0;0;100 1.482 True ENSG00000049860 ENSG00000049860 HGNC:4879 HEY2 gene HEY2 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal congenital heart defects and thoracic aortic aneurysms 32820247 False 1 0;0;100 1.482 True ENSG00000135547 ENSG00000135547 HGNC:4881 HGSNAT gene HGSNAT Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657 19479962;31228227;20825431;20583299 False 1 0;0;100 1.482 True ENSG00000165102 ENSG00000165102 HGNC:26527 HNRNPU gene HNRNPU Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 54, MIM#617391 28944577;28393272 False 1 0;0;100 1.482 True ENSG00000153187 ENSG00000153187 HGNC:5048 HOXB1 gene HOXB1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Facial paresis, hereditary congenital, 3, MIM# 614744;MONDO:0013880 22770981;26007620;27144914 False 1 0;0;100 1.482 True ENSG00000120094 ENSG00000120094 HGNC:5111 HOXB6 gene HOXB6 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypospadias 17003840;22371315 False 1 0;0;100 1.482 True ENSG00000108511 ENSG00000108511 HGNC:5117 HPD gene HPD Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hawkinsinuria (MIM#140350), AD;Tyrosinemia type III (MIM#276710), AR 10942115;17560158;27604308 False 1 0;0;100 1.482 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPGD gene HPGD Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100;Cranioosteoarthropathy MIM#259100 20406614;32282352;31878983;29282707 False 1 0;0;100 1.482 True ENSG00000164120 ENSG00000164120 HGNC:5154 HR gene HR Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Atrichia with papular lesions MIM#209500 False 1 0;0;100 1.482 True ENSG00000168453 ENSG00000168453 HGNC:5172 HYAL1 gene HYAL1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093 10339581;18344557;21559944 False 1 0;0;100 1.482 True ENSG00000114378 ENSG00000114378 HGNC:5320 HYDIN gene HYDIN Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5 (MIM#08647) 30712880;23022101;23849777 False 1 0;0;100 1.482 True ENSG00000157423 ENSG00000157423 HGNC:19368 IDH1 gene IDH1 Expert Review Red;Genomics England PanelApp Fetal anomalies Other Ollier disease MONDO:0008145;Maffucci syndrome MONDO:0013808 22057234;22057236;22025298;24049096;34393643;34588213;34624834;34720940 False 1 0;0;100 1.482 True ENSG00000138413 ENSG00000138413 HGNC:5382 IGFBP7 gene IGFBP7 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224 34519236;31730227;32429784 False 1 0;0;100 1.482 True ENSG00000163453 ENSG00000163453 HGNC:5476 IGSF1 gene IGSF1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central, and testicular enlargement MIM#300888 26840047 False 1 0;50;50 1.482 True ENSG00000147255 ENSG00000147255 HGNC:5948 IL1RAPL1 gene IL1RAPL1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 21 MIM#300143 34452636;27470653;21484992;18801879;18801879 False 1 0;0;100 1.482 True ENSG00000169306 ENSG00000169306 HGNC:5996 INTS8 gene INTS8 Expert list;Expert Review Red Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572) 28542170 False 1 0;0;100 1.482 True ENSG00000164941 ENSG00000164941 HGNC:26048 IQCB1 gene IQCB1 Expert Review Red;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5 609254 False 1 0;0;100 1.482 True ENSG00000173226 ENSG00000173226 HGNC:28949 IQSEC2 gene IQSEC2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656;Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 31415821;20473311;30842726;33368194;23674175 False 1 0;0;100 1.482 True ENSG00000124313 ENSG00000124313 HGNC:29059 IRS4 gene IRS4 Expert Review Red;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, congenital, nongoitrous, 9- MIM#301035 34566885;34225927;34093435;33107432;30061370 False 1 0;50;50 1.482 True ENSG00000133124 ENSG00000133124 HGNC:6128 IRX4 gene IRX4 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular septal defect 21544582 False 1 0;0;100 1.482 True ENSG00000113430 ENSG00000113430 HGNC:6129 ITCH gene ITCH Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 20170897 False 1 0;0;100 1.482 True ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA7 gene ITGA7 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 9590299 False 1 0;0;100 1.482 True ENSG00000135424 ENSG00000135424 HGNC:6143 ITPR1 gene ITPR1 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 15 MIM#606658;Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360;Gillespie syndrome, MIM# 206700 27108797;31340402;30242502;29169895 False 1 0;0;100 1.482 True ENSG00000150995 ENSG00000150995 HGNC:6180 IYD gene IYD Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4 - MIM#274800 18434651;18765512;838849;14169503 False 1 50;0;50 1.482 True ENSG00000009765 ENSG00000009765 HGNC:21071 KARS gene KARS Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with or without deafness (LEPID), MIM#619147 26741492;31618474;28887846;25330800;29615062;30252186;28496994 False 1 0;0;100 1.482 True ENSG00000065427 ENSG00000065427 HGNC:6215 KBTBD13 gene KBTBD13 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy 6, autosomal dominant (MIM#609273) 11731279;21104864 False 1 0;0;100 1.482 True ENSG00000234438 ENSG00000234438 HGNC:37227 KCNC3 gene KCNC3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM#605259 False 1 0;0;100 1.482 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCNJ10 gene KCNJ10 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal SESAME syndrome (MIM#612780);Enlarged vestibular aqueduct, digenic (MIM#600791) 19289823;19420365;21849804;19426954 False 1 0;0;100 1.482 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ6 gene KCNJ6 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, MIM# 614098;MONDO:0013572 25620207;29852244 False 1 0;0;100 1.482 True ENSG00000157542 ENSG00000157542 HGNC:6267 KCNQ2 gene KCNQ2 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7 (MIM#613720);Myokymia (MIM#121200);Seizures, benign neonatal, 1 (MIM#121200) 30712880;31105003;33134511 False 1 0;0;100 1.482 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM# 121201 33337327;25524373;24851285 False 1 0;0;100 1.482 True ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 46, MIM# 617601 28669405;30359776 False 1 0;0;100 1.482 True ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 5 (MIM#615005);Epileptic encephalopathy, early infantile, 14 (MIM#614959) 23086397;23086396;31872048;31532509 False 1 0;0;100 1.482 True ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD7 gene KCTD7 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) 33767931;33970744;22693283;22748208 False 1 0;0;100 1.482 True ENSG00000243335 ENSG00000243335 HGNC:21957 KIF26B gene KIF26B Expert Review;Expert Review Red Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis 30151950 False 1 0;0;100 1.482 True ENSG00000162849 ENSG00000162849 HGNC:25484 KISS1R gene KISS1R Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia 614837 17164310;31073722;14573733 False 1 0;0;100 1.482 True ENSG00000116014 ENSG00000116014 HGNC:4510 KMT2B gene KMT2B Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 28, childhood-onset, MIM#617284 False 1 0;0;100 1.482 True ENSG00000272333 ENSG00000272333 HGNC:15840 KMT5B gene KMT5B Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 51, MIM#617788 25363768;28191889;29276005 False 1 0;0;100 1.482 True ENSG00000110066 ENSG00000110066 HGNC:24283 KRT74 gene KRT74 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Woolly hair, autosomal dominant (MIM#194300) 21188418 False 1 0;0;100 1.482 True ENSG00000170484 ENSG00000170484 HGNC:28929 L2HGDH gene L2HGDH Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, MIM#236792 20052767 False 1 0;0;100 1.482 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA3 gene LAMA3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Epidermolysis bullosa, junctional 2A, intermediate MIM#619783;Epidermolysis bullosa, junctional 2B, severe MIM#619784;Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660" 7633458;8530087;11810295;10366601 False 1 0;50;50 1.482 True ENSG00000053747 ENSG00000053747 HGNC:6483 LAMA5 gene LAMA5 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal bent bone dysplasia;nephrotic syndrome;Presynaptic congenital myasthenic syndrome;multisystem syndrome;developmental delay 33242826;29534211;16790509;30589377;28735299;30631761 False 1 0;50;50 1.482 True ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB3 gene LAMB3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 226650;Epidermolysis bullosa, junctional 226700 11023379;7706760 False 1 0;50;50 1.482 True ENSG00000196878 ENSG00000196878 HGNC:6490 LAMP2 gene LAMP2 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Danon disease (MIM#300257) 25228319;27165304;16217705 False 1 0;0;100 1.482 True ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493;Cardiomyopathy, hypertrophic, 24 MIM#601493;Left ventricular noncompaction 3 MIM#601493;Myopathy, myofibrillar, 4 MIM#609452 17394203;26419279;16427346;14660611;14662268;27546599;25911362 False 1 50;0;50 1.482 True ENSG00000122367 ENSG00000122367 HGNC:15710 LEMD3 gene LEMD3 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Buschke-Ollendorff syndrome MIM#166700;Osteopoikilosis with or without melorheostosis MIM#166700 False 1 0;0;100 1.482 True ENSG00000174106 ENSG00000174106 HGNC:28887 LHX3 gene LHX3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM#221750) 28302169 False 1 0;0;100 1.482 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 4, MIM#262700 11567216;18445675;27820671 False 1 50;0;50 1.482 True ENSG00000121454 ENSG00000121454 HGNC:21734 LIAS gene LIAS Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 24334290;22152680 False 1 0;0;100 1.482 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIPT1 gene LIPT1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, MIM#616299 24341803;24256811;29681092 False 1 0;0;100 1.482 True ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 28757203 False 1 0;0;100 1.482 True ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 False 1 0;0;100 1.482 True ENSG00000168216 ENSG00000168216 HGNC:23038 LRBA gene LRBA Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 False 1 0;0;100 1.482 True ENSG00000198589 ENSG00000198589 HGNC:1742 LTBP2 gene LTBP2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glaucoma 3, primary congenital, D 613086;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750 19656777;19361779;20617341;32165823;30380740;30565850 False 1 0;0;100 1.482 True ENSG00000119681 ENSG00000119681 HGNC:6715 LYST gene LYST Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 False 1 0;0;100 1.482 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAN1B1 gene MAN1B1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Rafiq syndrome, MIM# 614202 False 1 0;0;100 1.482 True ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 False 1 0;0;100 1.482 True ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM# 248510;MONDO:0009562 False 1 0;0;100 1.482 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, MIM# 300615 25807999;24169519 False 1 0;0;100 1.482 True ENSG00000189221 ENSG00000189221 HGNC:6833 MAT1A gene MAT1A Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850;Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850;Disorders of the metabolism of sulphur amino acids 27604308;7560086 False 1 0;0;100 1.482 True ENSG00000151224 ENSG00000151224 HGNC:6903 MCF2 gene MCF2 Expert list;Expert Review Red Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Perisylvian polymicrogyria 31846234 False 1 0;0;100 1.482 True ENSG00000101977 ENSG00000101977 HGNC:6940 MDH2 gene MDH2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 51 MIM#617339 27989324;34766628 False 1 0;0;100 1.482 True ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rett syndrome, MIM# 312750;Encephalopathy, neonatal severe 300673 30712880 False 1 50;0;50 1.482 True ENSG00000169057 ENSG00000169057 HGNC:6990 MECR gene MECR Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282" 27817865;33401012;31137067;31070877 False 1 0;0;100 1.482 True ENSG00000116353 ENSG00000116353 HGNC:19691 METTL23 gene METTL23 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44 - #615942 32878022;32439618;32067349;24626631;24501276 False 1 0;0;100 1.482 True ENSG00000181038 ENSG00000181038 HGNC:26988 MFRP gene MFRP Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 5, MIM# 611040 17167404;18554571;20361016 False 1 0;0;100 1.482 True ENSG00000235718 ENSG00000235718 HGNC:18121 MIB1 gene MIB1 Expert list;Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 33057194 False 1 0;50;50 1.482 True ENSG00000101752 ENSG00000101752 HGNC:21086 MMP13 gene MMP13 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal anadysplasia 1 (MIM#602111);Metaphyseal dysplasia, Spahr type (MIM#250400) 19615667;24781753;24648384 False 1 50;0;50 1.482 True Other ENSG00000137745 ENSG00000137745 HGNC:7159 MORC2 gene MORC2 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090 32693025 False 1 0;0;100 1.482 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPI gene MPI Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal MPI-CDG, MONDO:0011257;Congenital disorder of glycosylation, type Ib, OMIM:602579 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 1 0;0;100 1.482 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 22593919 False 1 50;0;50 1.482 True ENSG00000115204 ENSG00000115204 HGNC:7224 MUC3A gene MUC3A Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related 40949908 False 1 0;0;100 1.482 True ENSG00000169894 ENSG00000169894 HGNC:7513 MYBPC2 gene MYBPC2 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops;Hygroma;Fetal akinesia;Multiple pterygium 32732226 False 1 0;0;100 1.482 True ENSG00000086967 ENSG00000086967 HGNC:7550 MYL1 gene MYL1 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414;Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 30215711 False 1 0;0;100 1.482 True ENSG00000168530 ENSG00000168530 HGNC:7582 MYO5A gene MYO5A Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1 MIM#214450 32275080;22711375;25283056 False 1 0;0;100 1.482 True ENSG00000197535 ENSG00000197535 HGNC:7602 MYPN gene MYPN Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 11, autosomal recessive, MIM# 617336 28017374;28220527;31133047 False 1 0;0;100 1.482 True ENSG00000138347 ENSG00000138347 HGNC:23246 MYT1L gene MYT1L Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 39, MIM# 616521 32065501 False 1 50;0;50 1.482 True ENSG00000186487 ENSG00000186487 HGNC:7623 NAGLU gene NAGLU Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 8650226 False 1 0;50;50 1.482 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAXE gene NAXE Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy , MIM#617186" False 1 0;0;100 1.482 True ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 29506883;19185523;17262856;21596602 False 1 0;0;100 1.482 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFAF2 gene NDUFAF2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 20571988 False 1 0;0;100 1.482 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFS1 gene NDUFS1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 20382551 False 1 0;0;100 1.482 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS4 gene NDUFS4 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010;Leigh syndrome, MIM#252010 10944442;27079373;19107570;12616398 False 1 0;0;100 1.482 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, MIM#618224 17604671;17275378;10360771 False 1 0;0;100 1.482 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 23430795;9837812;15159508;22499348;20818383;20819849 False 1 0;0;100 1.482 True ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 34807224 False 1 0;0;100 1.482 True ENSG00000167792 ENSG00000167792 HGNC:7716 NEK10 gene NEK10 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 44 - MIM#618781 31959991 False 1 0;0;100 1.482 True ENSG00000163491 ENSG00000163491 HGNC:18592 NEXMIF gene NEXMIF Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 98 300912 27358180 False 1 0;0;100 1.482 True ENSG00000050030 ENSG00000050030 HGNC:29433 NFU1 gene NFU1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 21944046;22077971;32747156;29441221 False 1 0;0;100 1.482 True ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM# 615273 24651605;27388694;32259258;29550355 False 1 50;0;50 1.482 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHP2 gene NHP2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987;H yeraal-Hreidarsson syndrome 18523010;31985013 False 1 0;0;100 1.482 True ENSG00000145912 ENSG00000145912 HGNC:14377 NKX6-2 gene NKX6-2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560;MONDO:0033043 28575651;15601927;32246862;32004679 False 1 0;0;100 1.482 True ENSG00000148826 ENSG00000148826 HGNC:19321 NR2F1 gene NR2F1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 32275123 False 1 0;0;100 1.482 True ENSG00000175745 ENSG00000175745 HGNC:7975 NRXN2 gene NRXN2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism 21424692;30709877;25745399 False 1 0;0;100 1.482 True ENSG00000110076 ENSG00000110076 HGNC:8009 NT5C3A gene NT5C3A Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 11369620;12714505;30951028;25153905 False 1 0;0;100 1.482 True ENSG00000122643 ENSG00000122643 HGNC:17820 NTRK2 gene NTRK2 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity, hyperphagia, and developmental delay, MIM# 613886;Developmental and epileptic encephalopathy 58, MIM# 617830 15494731;27884935;29100083 False 1 0;0;100 1.482 True ENSG00000148053 ENSG00000148053 HGNC:8032 NUF2 gene NUF2 Expert Review;Expert Review Red Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254;microcephaly;short stature;bilateral vocal cord paralysis;micrognathia;atrial septal defect 33721060 False 1 0;0;100 1.482 True ENSG00000143228 ENSG00000143228 HGNC:14621 NUP62 gene NUP62 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, MIM#271930 False 1 0;0;100 1.482 True ENSG00000213024 ENSG00000213024 HGNC:8066 PAICS gene PAICS Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polyhydramnios;multiple congenital abnormalities;early neonatal death 31600779 False 1 0;0;100 1.482 True ENSG00000128050 ENSG00000128050 HGNC:8587 PATJ gene PATJ Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliopathy, MONDO:0005308, PATJ-related 40931526 False 1 0;0;100 1.482 True ENSG00000132849 ENSG00000132849 HGNC:28881 PAX7 gene PAX7 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, OMIM:618578;Myopathy, congenital, progressive, with scoliosis, MONDO:0032821 False 1 0;0;100 1.482 True ENSG00000009709 ENSG00000009709 HGNC:8621 PCYT1A gene PCYT1A Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940 False 1 0;0;100 1.482 True ENSG00000161217 ENSG00000161217 HGNC:8754 PCYT2 gene PCYT2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 82, autosomal recessive MIM#618770" 31637422 False 1 0;0;100 1.482 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDE10A gene PDE10A Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, MIM#616921;Striatal degeneration, autosomal dominant, MIM#616922 27058446 False 1 0;0;100 1.482 True ENSG00000112541 ENSG00000112541 HGNC:8772 PDSS1 gene PDSS1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 MIM#614651 17332895;22494076;33285023 False 1 50;0;50 1.482 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3 MIM#614652 29032433;25349199;17186472;21723727;10972372 False 1 0;0;100 1.482 True ENSG00000164494 ENSG00000164494 HGNC:23041 PEPD gene PEPD Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, OMIM #170100 False 1 0;0;100 1.482 True ENSG00000124299 ENSG00000124299 HGNC:8840 PFKM gene PFKM Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, OMIM:232800;Glycogen storage disease VII, MONDO:0009295 False 1 0;0;100 1.482 True ENSG00000152556 ENSG00000152556 HGNC:8877 PHC1 gene PHC1 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, MIM#615414 23418308 False 1 0;0;100 1.482 True ENSG00000111752 ENSG00000111752 HGNC:3182 PHF6 gene PHF6 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, OMIM # 301900 False 1 0;0;100 1.482 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHIP gene PHIP Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chung-Jansen syndrome, MIM#617991 29209020;27900362;23033978 False 1 0;0;100 1.482 True ENSG00000146247 ENSG00000146247 HGNC:15673 PLCB1 gene PLCB1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 12 (MIM#613722) 24684524;20833646;22690784;26818157 False 1 50;0;50 1.482 True ENSG00000182621 ENSG00000182621 HGNC:15917 PLEKHM1 gene PLEKHM1 Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 6 - MIM#611497;Osteopetrosis, autosomal dominant 3 - MIM#618107 17404618;17997709;27291868;27777970;28290981 False 1 0;0;100 1.482 True ENSG00000225190 ENSG00000225190 HGNC:29017 PLP1 gene PLP1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease MIM#312080;Spastic paraplegia 2, X-linked MIM#312920 20301361 False 1 0;0;100 1.482 True ENSG00000123560 ENSG00000123560 HGNC:9086 POLG2 gene POLG2 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415;Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 16685652;21555342;27592148;31778857 False 1 0;50;50 1.482 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLR3B gene POLR3B Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 False 1 0;0;100 1.482 True ENSG00000013503 ENSG00000013503 HGNC:30348 PPA2 gene PPA2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, alcohol-induced, 617223;Sudden cardiac failure, infantile, 617222 27523598;34400813 False 1 0;0;100 1.482 True ENSG00000138777 ENSG00000138777 HGNC:28883 PPM1D gene PPM1D Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Jansen de Vries syndrome (MIM #617450) 28343630;31916397;30795918;29758292 False 1 50;0;50 1.482 True ENSG00000170836 ENSG00000170836 HGNC:9277 PPT1 gene PPT1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730;MONDO:0009744 7637805;9425237;9664077 False 1 0;0;100 1.482 True ENSG00000131238 ENSG00000131238 HGNC:9325 PROP1 gene PROP1 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2- #262600 15941866;11549703;20301521;32415500 False 1 0;100;0 1.482 True ENSG00000175325 ENSG00000175325 HGNC:9455 PRRT2 gene PRRT2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066;Episodic kinesigenic dyskinesia 1, MIM# 128200;Seizures, benign familial infantile, 2, MIM# 605751;intellectual disability, autosomal recessive 23352743;25595153;23398397 False 1 0;0;100 1.482 True ENSG00000167371 ENSG00000167371 HGNC:30500 PRSS12 gene PRSS12 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual disability, PRSS12 related MIM#249500 12459588;22090715;23344636 False 1 0;0;100 1.482 True ENSG00000164099 ENSG00000164099 HGNC:9477 PSMB8 gene PSMB8 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1, MIM# 256040;MONDO:0054698 21129723;21881205;21852578;21953331 False 1 0;0;100 1.482 True ENSG00000204264 ENSG00000204264 HGNC:9545 PTCHD1 gene PTCHD1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females intellectual disability MIM#300830 33856728;25131214 False 1 0;0;100 1.482 True ENSG00000165186 ENSG00000165186 HGNC:26392 PTH gene PTH Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Hypoparathyroidism, familial isolated 1, MIM# 146200" False 1 0;0;100 1.482 True ENSG00000152266 ENSG00000152266 HGNC:9606 PYCR2 gene PYCR2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 10, MIM# 616420" False 1 0;0;100 1.482 True ENSG00000143811 ENSG00000143811 HGNC:30262 PYGM gene PYGM Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease V, MONDO:0009293;McArdle disease, OMIM:232600 1701414;8316268;17915571;17994553;21880526 False 1 0;0;100 1.482 True ENSG00000068976 ENSG00000068976 HGNC:9726 PYROXD1 gene PYROXD1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8 (MIM#617258) 30345904;30515627;27745833 False 1 0;0;100 1.482 True ENSG00000121350 ENSG00000121350 HGNC:26162 QSER1 gene QSER1 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, QSER1-related PMID: 41139957 False 1 0;0;100 1.482 True ENSG00000060749 ENSG00000060749 HGNC:26154 RAB11A gene RAB11A Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy and intellectual disability 29100083 False 1 0;0;100 1.482 True ENSG00000103769 ENSG00000103769 HGNC:9760 RAB33B gene RAB33B Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2, OMIM:615222;Smith-McCort dysplasia 2, MONDO:0014087 False 1 0;0;100 1.482 True ENSG00000172007 ENSG00000172007 HGNC:16075 RAB39B gene RAB39B Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72 MIM#300271;Waisman syndrome MIM#311510 34761259;20159109;25434005;27066548;26399558;27943471;28851564;28851564;29152164;33880059;27448726;32670181 False 1 0;0;100 1.482 True ENSG00000155961 ENSG00000155961 HGNC:16499 RASGRP2 gene RASGRP2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 18 - MIM#615888 28637664;28726538;28762304;30046681;34066320;33711653;33376940;32609603;30849270;30046681 False 1 0;0;100 1.482 True ENSG00000068831 ENSG00000068831 HGNC:9879 RPH3A gene RPH3A Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 29441694 False 1 0;0;100 1.482 True ENSG00000089169 ENSG00000089169 HGNC:17056 RRM2B gene RRM2B Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 24741716 False 1 0;0;100 1.482 True ENSG00000048392 ENSG00000048392 HGNC:17296 RSPH1 gene RSPH1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24 (MIM#615481) 30166424;23993197 False 1 0;0;100 1.482 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32 (MIM#616481) 30166424;26073779 False 1 0;0;100 1.482 True ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary 612649 25789548 False 1 0;0;100 1.482 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, MIM# 612650 19200523 False 1 0;0;100 1.482 True ENSG00000172426 ENSG00000172426 HGNC:21057 SACS gene SACS Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 28843771;20876471;28658676;27871429 False 1 0;0;100 1.482 True ENSG00000151835 ENSG00000151835 HGNC:10519 SCN1B gene SCN1B Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 52, MIM#617350;Atrial fibrillation, familial, 13, MIM# 615377 False 1 0;0;100 1.482 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN7A gene SCN7A Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 32732226 False 1 0;0;100 1.482 True ENSG00000136546 ENSG00000136546 HGNC:10594 SCN8A gene SCN8A Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive;Myoclonus, familial, 2, MIM# 618364;paroxysmal kinesigenic dyskinesias;Cognitive impairment with or without cerebellar ataxia, MIM# 614306 False 1 0;0;100 1.482 True ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 1 0;0;100 1.482 True ENSG00000133028 ENSG00000133028 HGNC:10603 SCYL1 gene SCYL1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719" False 1 0;0;100 1.482 True ENSG00000142186 ENSG00000142186 HGNC:14372 SDHAF1 gene SDHAF1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 19465911;26749241;22995659 False 1 0;0;100 1.482 True ENSG00000205138 ENSG00000205138 HGNC:33867 SECISBP2 gene SECISBP2 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid hormone metabolism, abnormal, MIM# 609698 16228000;19602558;21084748;22247018 False 1 0;0;100 1.482 True ENSG00000187742 ENSG00000187742 HGNC:30972 SELENON gene SELENON Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, congenital, with fiber-type disproportion 255310;Muscular dystrophy, rigid spine 602771 False 1 0;0;100 1.482 True ENSG00000162430 ENSG00000162430 HGNC:15999 SEPT9 gene SEPT9 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic, MIM# 162100 16186812;19451530;19939853;19139049;18492087 False 1 0;50;50 1.482 True ENSG00000184640 ENSG00000184640 HGNC:7323 SERPINA11 gene SERPINA11 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal pericardial effusion;pleural effusion 38831697 False 1 0;0;100 1.482 True ENSG00000186910 ENSG00000186910 HGNC:19193 SERPINF1 gene SERPINF1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, OMIM:613982;Osteogenesis imperfecta type 6, MONDO:0013515 False 1 0;0;100 1.482 True ENSG00000132386 ENSG00000132386 HGNC:8824 SET gene SET Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Mental retardation, autosomal dominant 58, MIM# 618106" False 1 0;0;100 1.482 True ENSG00000119335 ENSG00000119335 HGNC:10760 SETD1A gene SETD1A Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM# 618832;Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 31197650;32346159 False 1 0;0;100 1.482 True ENSG00000099381 ENSG00000099381 HGNC:29010 SGCA gene SGCA Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2D 608099 False 1 0;0;100 1.482 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCG gene SGCG Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677;Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 False 1 0;0;100 1.482 True ENSG00000102683 ENSG00000102683 HGNC:10809 SGMS2 gene SGMS2 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550 34236445;32028018;30779713;34761145;34504906 False 1 0;0;100 1.482 True ENSG00000164023 ENSG00000164023 HGNC:28395 SGSH gene SGSH Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900;MONDO:0009655 7493035;9158154;9401012;9554748 False 1 0;0;100 1.482 True ENSG00000181523 ENSG00000181523 HGNC:10818 SHANK1 gene SHANK1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SHANK1-related 22503632;25188300;34113010 False 1 33;0;67 1.482 True ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Autism susceptibility 17}, MIM# 613436" False 1 0;0;100 1.482 True ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MONDO:0011652;Phelan-McDermid syndrome, OMIM:606232 16284256;17173049;20186804;22892527 False 1 0;0;100 1.482 True ENSG00000251322 ENSG00000251322 HGNC:14294 SIK1 gene SIK1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 30 (MIM#616341) 25839329 False 1 0;0;100 1.482 True ENSG00000142178 ENSG00000142178 HGNC:11142 SIM1 gene SIM1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe obesity with neurobehavioral features 23778136;23778139;28472148 False 1 0;0;100 1.482 True ENSG00000112246 ENSG00000112246 HGNC:10882 SIX1 gene SIX1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 23 (MIM# 605192);Branchiootic syndrome 3 (MIM# 608389) False 1 0;0;100 1.482 True ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, MIM#610896 17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668 False 1 50;0;50 1.482 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC19A3 gene SLC19A3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483) 23423671;24878502;19387023;20065143 False 1 0;0;100 1.482 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 41, MIM# 617105" 27476654;28777935 False 1 0;0;100 1.482 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC22A5 gene SLC22A5 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM#212140 False 1 0;0;100 1.482 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 23, presynaptic MIM#618197;Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182 26870663;31527857;29226520 False 1 0;0;100 1.482 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A19 gene SLC25A19 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, OMIM:607196;Amish lethal microcephaly, MONDO:0011790 31506564;31295743;12185364;19798730 False 1 0;0;100 1.482 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC26A4 gene SLC26A4 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pendred syndrome - MIM#274600 False 1 0;50;50 1.482 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLC26A7 gene SLC26A7 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormogenesis - no OMIM gene disease association 34780050;32486989;31372509;30333321;29546359 False 1 50;0;50 1.482 True ENSG00000147606 ENSG00000147606 HGNC:14467 SLC2A1 gene SLC2A1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 False 1 0;0;100 1.482 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A2 gene SLC2A2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 False 1 0;0;100 1.482 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC39A13 gene SLC39A13 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350) 18985159;18513683;28306229;28306225 False 1 0;0;100 1.482 True ENSG00000165915 ENSG00000165915 HGNC:20859 SLC45A1 gene SLC45A1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 28434495 False 1 0;0;100 1.482 True ENSG00000162426 ENSG00000162426 HGNC:17939 SLC46A1 gene SLC46A1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, MIM# 229050 17446347;17129779;21333572 False 1 0;0;100 1.482 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A4 gene SLC4A4 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278) 16636648;10545938;11131345 False 1 0;0;100 1.482 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A2 gene SLC52A2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 (MIM#614707) 10797435;22740598;22864630;24253200 False 1 0;0;100 1.482 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) 29053833;29193829 False 1 0;0;100 1.482 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC6A17 gene SLC6A17 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 48, MIM# 616269" False 1 0;0;100 1.482 True ENSG00000197106 ENSG00000197106 HGNC:31399 SLC9A6 gene SLC9A6 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243;MONDO:0010278 18342287;19377476;25044251;33278113;32569089;31879735 False 1 0;0;100 1.482 True ENSG00000198689 ENSG00000198689 HGNC:11079 SMS gene SMS Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583;Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 False 1 0;0;100 1.482 True ENSG00000102172 ENSG00000102172 HGNC:11123 SNRPE gene SNRPE Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 11, MIM #615059 False 1 0;0;100 1.482 True ENSG00000182004 ENSG00000182004 HGNC:11161 SNX10 gene SNX10 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8, OMIM:615085;Autosomal recessive osteopetrosis 8, MONDO:0014040 False 1 0;0;100 1.482 True ENSG00000086300 ENSG00000086300 HGNC:14974 SOX17 gene SOX17 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 3 MIM#613674;Pulmonary arterial hypertension 29650961;31406341 False 1 0;0;100 1.482 True ENSG00000164736 ENSG00000164736 HGNC:18122 SOX5 gene SOX5 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lamb-Shaffer syndrome, MIM#616803 31578471 False 1 0;0;100 1.482 True ENSG00000134532 ENSG00000134532 HGNC:11201 SP110 gene SP110 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency 235550 20301448;31721003 False 1 0;0;100 1.482 True ENSG00000135899 ENSG00000135899 HGNC:5401 SP7 gene SP7 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta type 12, MONDO:0013460;Osteogenesis imperfecta, type XII, OMIM:613849 False 1 0;0;100 1.482 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPARC gene SPARC Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, OMIM:616507;Osteogenesis imperfecta type 17, MONDO:0014672 False 1 0;0;100 1.482 True ENSG00000113140 ENSG00000113140 HGNC:11219 SPEF2 gene SPEF2 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 43, MIM#618751;Primary ciliary dyskinesia-like phenotype 31151990;31278745;31048344;31942643 False 1 0;0;100 1.482 True ENSG00000152582 ENSG00000152582 HGNC:26293 SPRED1 gene SPRED1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome, MIM# 611431 17704776;19366998;21548021 False 1 0;0;100 1.482 True ENSG00000166068 ENSG00000166068 HGNC:20249 SPTAN1 gene SPTAN1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, MIM# 613477 20493457;22258530;32811770 False 1 0;0;100 1.482 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN2 gene SPTBN2 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5 (MIM#600224);Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386) 28636205;29196973;23236289;23838597;22781464;31617442;31066025 False 1 0;0;100 1.482 True ENSG00000173898 ENSG00000173898 HGNC:11276 SPTBN5 gene SPTBN5 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sacral agenesis;Multicystic kidney;Oligohydramnios 28007035;32732226 False 1 0;0;100 1.482 True ENSG00000137877 ENSG00000137877 HGNC:15680 SRP54 gene SRP54 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752" False 1 0;0;100 1.482 True ENSG00000100883 ENSG00000100883 HGNC:11301 ST3GAL3 gene ST3GAL3 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 12 MIM# 611090;Developmental and epileptic encephalopathy 15, MIM# 615006 23252400;21907012;31584066 False 1 0;50;50 1.482 True ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome;OMIM #609056 23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 1 50;0;50 1.482 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 47, MIM# 617635 28119487 False 1 0;0;100 1.482 True ENSG00000118007 ENSG00000118007 HGNC:11354 STX1B gene STX1B Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172" False 1 0;0;100 1.482 True ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4 (MIM#612164) 31855252;18469812 False 1 0;0;100 1.482 True ENSG00000136854 ENSG00000136854 HGNC:11444 SURF1 gene SURF1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110) 23829769 False 1 0;0;100 1.482 True ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females "Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491;Intellectual developmental disorder, X-linked 50, MIM# 300115" False 1 0;0;100 1.482 True ENSG00000008056 ENSG00000008056 HGNC:11494 SYNCRIP gene SYNCRIP Expert Review;Expert Review Red Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SYNCRIP-related neurodevelopmental disorder 34157790 False 1 0;0;100 1.482 True ENSG00000135316 ENSG00000135316 HGNC:16918 SYNGAP1 gene SYNGAP1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 5 (MIM # 612621) 26079862 False 1 50;0;50 1.482 True ENSG00000197283 ENSG00000197283 HGNC:11497 SYP gene SYP Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 96 (MIM#300802) 19377476 False 1 0;0;100 1.482 True ENSG00000102003 ENSG00000102003 HGNC:11506 TAC3 gene TAC3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 10 with or without anosmia , MIM#614839" False 1 0;0;100 1.482 True ENSG00000166863 ENSG00000166863 HGNC:11521 TACO1 gene TACO1 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, OMIM #220110 19503089;20727754;25044680 False 1 0;50;50 1.482 True ENSG00000136463 ENSG00000136463 HGNC:24316 TANGO2 gene TANGO2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878) 26805781;26805782;30245509 False 1 0;0;100 1.482 True ENSG00000183597 ENSG00000183597 HGNC:25439 TBL1X gene TBL1X Expert Review Red;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033 30591955;27603907 False 1 0;50;50 1.482 True ENSG00000101849 ENSG00000101849 HGNC:11585 TBXAS1 gene TBXAS1 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ghosal haematodiaphyseal syndrome (MIM#231095) False 1 0;0;100 1.482 True ENSG00000059377 ENSG00000059377 HGNC:11609 TCF20 gene TCF20 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TCF20 syndrome;Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 30739909;30819258;25228304 False 1 0;0;100 1.482 True ENSG00000100207 ENSG00000100207 HGNC:11631 TCN2 gene TCN2 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 19373259;32841161;33023511;30124850 False 1 0;0;100 1.482 True ENSG00000185339 ENSG00000185339 HGNC:11653 TEK gene TEK Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glaucoma 3, primary congenital, E (MIM#617272);Venous malformations, multiple cutaneous and mucosal (MIM#600195) 19888299 False 1 0;0;100 1.482 True ENSG00000120156 ENSG00000120156 HGNC:11724 TGFB1 gene TGFB1 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 29483653 False 1 0;0;100 1.482 True ENSG00000105329 ENSG00000105329 HGNC:11766 THAP4 gene THAP4 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related 40949908 False 1 0;0;100 1.482 True ENSG00000176946 ENSG00000176946 HGNC:23187 TIMM8A gene TIMM8A Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, MIM# 304700 False 1 0;0;100 1.482 True ENSG00000126953 ENSG00000126953 HGNC:11817 TK2 gene TK2 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560) False 1 0;0;100 1.482 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMBIM4 gene TMBIM4 Expert Review Red;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral heterotaxy MONDO:0018677, TMBIM4-related 40744297;21282601;28991257 False 1 0;0;100 1.482 True ENSG00000155957 ENSG00000155957 HGNC:24257 TMEM53 gene TMEM53 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Craniotubular dysplasia, Ikegawa type - MIM#619727 33824347 False 1 0;0;100 1.482 True ENSG00000126106 ENSG00000126106 HGNC:26186 TNXB gene TNXB Expert Review Red;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Vesicoureteral reflux 8 615963;Ehlers-Danlos syndrome due to tenascin X deficiency 606408 19921645;28306229;28306225;23620400 False 1 0;0;100 1.482 True ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 Expert Review Red;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988;Muscular dystrophy, limb-girdle, autosomal recessive 8, MIM# 254110 30823891;16606853 False 1 0;0;100 1.482 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP12 gene TRIP12 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 27848077;28251352 False 1 50;0;50 1.482 True ENSG00000153827 ENSG00000153827 HGNC:12306 TRPS1 gene TRPS1 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type I, OMIM #190350;Trichorhinophalangeal syndrome, type III, OMIM #190351 10615131;11950061;11112658 False 1 0;0;100 1.482 True ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV3 gene TRPV3 Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Olmsted syndrome 1, MIM# 614594" False 1 0;0;100 1.482 True ENSG00000167723 ENSG00000167723 HGNC:18084 TSEN34 gene TSEN34 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 18711368 False 1 0;0;100 1.482 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSPAN7 gene TSPAN7 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 58, MIM# 300210 False 1 0;0;100 1.482 True ENSG00000156298 ENSG00000156298 HGNC:11854 TTC12 gene TTC12 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 45 - MIM#618801 31978331 False 1 0;0;100 1.482 True ENSG00000149292 ENSG00000149292 HGNC:23700 TTC19 gene TTC19 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157) 23532514;24368687 False 1 0;0;100 1.482 True ENSG00000011295 ENSG00000011295 HGNC:26006 TTC37 gene TTC37 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM# 222470 20176027;17318842 False 1 0;0;100 1.482 True ENSG00000198677 ENSG00000198677 HGNC:23639 TUBA8 gene TUBA8 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 28388629;31481326;19896110 False 1 0;0;100 1.482 True ENSG00000183785 ENSG00000183785 HGNC:12410 TUSC3 gene TUSC3 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615;TUSC3-CDG (Disorders of protein N-glycosylation) 18452889;18455129;21739581;27148795;31606977 False 1 0;0;100 1.482 True ENSG00000104723 ENSG00000104723 HGNC:30242 UBA5 gene UBA5 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) 27545674;27545681 False 1 50;0;50 1.482 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBE2A gene UBE2A Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) 24053514;16909393 False 1 50;0;50 1.482 True ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome MIM#105830 False 1 50;0;50 1.482 True ENSG00000114062 ENSG00000114062 HGNC:12496 UBTF gene UBTF Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;MONDO:0044701 28777933;29300972 False 1 0;0;100 1.482 True ENSG00000108312 ENSG00000108312 HGNC:12511 UFC1 gene UFC1 Expert list;Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) 29868776;30552426 False 1 67;0;33 1.482 True ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 Expert list;Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14 MIM#617899 28931644;29868776;31914610 False 1 33;33;33 1.482 True ENSG00000120686 ENSG00000120686 HGNC:20597 UNC13A gene UNC13A Expert Review Red;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myasthenia;dyskinesia;autism;developmental delay 27648472;28192369 False 1 0;0;100 1.482 True ENSG00000130477 ENSG00000130477 HGNC:23150 UPF3B gene UPF3B Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 14, MIM# 300676 32667670;19377476;17704778;31737052;28948974 False 1 50;0;50 1.482 True ENSG00000125351 ENSG00000125351 HGNC:20439 UQCRB gene UQCRB Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, MIM #615158 12709789;28604960 False 1 0;0;100 1.482 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM #615159 18439546 False 1 0;50;50 1.482 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 19304569;30619714 False 1 0;0;100 1.482 True ENSG00000159650 ENSG00000159650 HGNC:26444 USP27X gene USP27X Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 105, MIM#300984 25644381 False 1 0;0;100 1.482 True ENSG00000242013 ENSG00000273820 HGNC:13486 VDR gene VDR Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Rickets, vitamin D-resistant, type IIA, MIM# 277440" False 1 0;0;100 1.482 True ENSG00000111424 ENSG00000111424 HGNC:12679 WAC gene WAC Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Desanto-Shinawi syndrome, MIM# 616708 26264232 False 1 50;0;50 1.482 True ENSG00000095787 ENSG00000095787 HGNC:17327 WDR45 gene WDR45 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5, MIM# 300894;Rett syndrome;Rett-like phenotypes 30842224;23176820 False 1 0;0;100 1.482 True ENSG00000196998 ENSG00000196998 HGNC:28912 WNT3 gene WNT3 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 1, OMIM #273395 18837045;16283889;14872406 False 1 0;0;100 1.482 True ENSG00000108379 ENSG00000108379 HGNC:12782 WRAP53 gene WRAP53 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, OMIM #613988 21205863;32303682;29514627 False 1 0;0;100 1.482 True ENSG00000141499 ENSG00000141499 HGNC:25522 XPA gene XPA Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, OMIM# 278700 26302748;25566891;24135642 False 1 50;0;50 1.482 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, MIM# 278720;MONDO:0010211 10447254 False 1 0;0;100 1.482 True ENSG00000154767 ENSG00000154767 HGNC:12816 YWHAG gene YWHAG Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 56, (MIMI#617665) 33393734;33590706;31926053;33767733 False 1 0;0;100 1.482 True ENSG00000170027 ENSG00000170027 HGNC:12852 ZFYVE26 gene ZFYVE26 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive MIM#270700 34057829 False 1 0;0;100 1.482 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZMYND11 gene ZMYND11 Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 30, MIM# 616083 32097528 False 1 0;0;100 1.482 True ENSG00000015171 ENSG00000015171 HGNC:16966 ZNF3 gene ZNF3 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephaly;Facial cleft 32732226 False 1 0;0;100 1.482 True ENSG00000166526 ENSG00000166526 HGNC:13089 ZNF711 gene ZNF711 Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 97, OMIM #300803 27993705;19377476 False 1 50;0;50 1.482 True ENSG00000147180 ENSG00000147180 HGNC:13128