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 ABCD4 gene ABCD4 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 22922874;31113616;30651581;28572511;33729671 False 2 0;100;0 1.313 True ENSG00000119688 ENSG00000119688 HGNC:68 ABHD5 gene ABHD5 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, MIM# 275630 30795549 False 2 0;100;0 1.313 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACO2 gene ACO2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM# 614559 22405087;25351951;30689204;32519519 False 2 0;100;0 1.313 True ENSG00000100412 ENSG00000100412 HGNC:118 ADARB1 gene ADARB1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, MIM#618862 32220291;32719099 False 2 0;100;0 1.313 True ENSG00000197381 ENSG00000197381 HGNC:226 AGRN gene AGRN Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence (FADS) 31730230 False 2 0;100;0 1.313 True ENSG00000188157 ENSG00000188157 HGNC:329 AHCY gene AHCY Expert list;Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal S-adenosylhomocysteine hydrolase deficiency;Fetal hydrops;Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 20852937;31957987;30121674 False 2 0;100;0 1.313 True ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, MIM# 300816;Cowchock syndrome, MIM# 310490;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 False 2 0;100;0 1.313 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALG11 gene ALG11 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, MIM# 613661 False 2 50;50;0 1.313 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG13 gene ALG13 Expert Review Amber;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) Congenital disorder of glycosylation, type Is (MIM# 300884);Developmental and epileptic encephalopathy. 23033978;23934111;24781210;24896178;25732998;26138355;26482601;28940310;32238909 False 2 33;67;0 1.313 True ENSG00000101901 ENSG00000101901 HGNC:30881 AP3B2 gene AP3B2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 48, MIM# 617276" 27889060 False 2 0;100;0 1.313 True ENSG00000103723 ENSG00000103723 HGNC:567 ASPH gene ASPH Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Traboulsi syndrome, OMIM:601552 24768550;30194805;34018898 False 2 0;100;0 1.313 True ENSG00000198363 ENSG00000198363 HGNC:757 ASTN1 gene ASTN1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polymicrogyria;hypoplastic corpus callosum 27431290;26539891;29706646;11861479 False 2 0;100;0 1.313 True ENSG00000152092 ENSG00000152092 HGNC:773 ASXL3 gene ASXL3 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome (OMIM # 615485) 28100473;27901041;23383720 False 2 50;50;0 1.313 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATP11A gene ATP11A Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 24 , MIM# 619851 34403372 False 2 0;100;0 1.313 True ENSG00000068650 ENSG00000068650 HGNC:13552 ATP9A gene ATP9A Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 34764295;34379057 False 2 0;100;0 1.313 True ENSG00000054793 ENSG00000054793 HGNC:13540 ATXN2L gene ATXN2L Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macrocephaly;intellectual disability 33283965;33057194 False 2 0;100;0 1.313 True ENSG00000168488 ENSG00000168488 HGNC:31326 B3GNT2 gene B3GNT2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Walker-Warburg syndrome 23359570;23877401 False 2 0;100;0 1.313 True ENSG00000170340 ENSG00000170340 HGNC:15629 BCL9L gene BCL9L Expert list;Expert Review Amber;Genomics England PanelApp;Literature;Other Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy;Congenital Heart Disease 23035047;8757136;30366904 False 2 0;100;0 1.313 True ENSG00000186174 ENSG00000186174 HGNC:23688 BCORL1 gene BCORL1 Expert Review;Expert Review Amber Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related False 2 0;100;0 1.313 True ENSG00000085185 ENSG00000085185 HGNC:25657 BMP3 gene BMP3 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma, MONDO:0001476;microphthalmia, MONDO:0021129 35089417 False 2 0;0;0 1.313 True ENSG00000152785 ENSG00000152785 HGNC:1070 BOLA3 gene BOLA3 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 30302924;29654549;30302924 False 2 0;100;0 1.313 True ENSG00000163170 ENSG00000163170 HGNC:24415 BPTF gene BPTF Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 28942966;33522091 False 2 0;100;0 1.313 True ENSG00000171634 ENSG00000171634 HGNC:3581 BRWD3 gene BRWD3 Expert Review Amber;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 93, MIM# 300659 30628072;24462886 False 2 0;100;0 1.313 True ENSG00000165288 ENSG00000165288 HGNC:17342 C7orf43 gene C7orf43 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 25, primary, autosomal recessive, MIM# 618351 30715179 False 2 0;100;0 1.313 True ENSG00000146826 ENSG00000146826 HGNC:25604 C8orf37 gene C8orf37 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 26854863;27008867 False 2 0;100;0 1.313 True ENSG00000156172 ENSG00000156172 HGNC:27232 CACNA1G gene CACNA1G Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 29878067;31836334 False 2 0;100;0 1.313 True Other ENSG00000006283 ENSG00000006283 HGNC:1394 CAMK2B gene CAMK2B Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 54, MIM# 617799 29100089;29560374;32875707 False 2 50;50;0 1.313 True ENSG00000058404 ENSG00000058404 HGNC:1461 CCDC28B gene CCDC28B Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, MONDO:0018772 32139166 False 2 0;100;0 1.313 True ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC88A gene CCDC88A Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like (MIM#617507) 30392057;26917597 False 2 0;100;0 1.313 True ENSG00000115355 ENSG00000115355 HGNC:25523 CDK5 gene CDK5 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia (MIM#616342) 25560765;32273484;32097629;28854363;7490100 False 2 0;50;50 1.313 True ENSG00000164885 ENSG00000164885 HGNC:1774 CDK6 gene CDK6 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 23918663 False 2 0;100;0 1.313 True ENSG00000105810 ENSG00000105810 HGNC:1777 CEP63 gene CEP63 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, OMIM:614728;Seckel syndrome 6, MONDO:0013871 21983783;26158450 False 2 0;100;0 1.313 True ENSG00000182923 ENSG00000182923 HGNC:25815 CHD3 gene CHD3 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome, MIM#618205 30397230 False 2 0;100;0 1.313 True ENSG00000170004 ENSG00000170004 HGNC:1918 CHD8 gene CHD8 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Autism, susceptibility to, 18} 615032;CHD8-related neurodevelopmental syndrome 31980904 False 2 0;100;0 1.313 True ENSG00000100888 ENSG00000100888 HGNC:20153 CHST11 gene CHST11 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 PMID: 26436107;29514872 False 2 0;100;0 1.313 True ENSG00000171310 ENSG00000171310 HGNC:17422 CHUK gene CHUK Expert Review Amber;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339;Cocoon syndrome, MIM# 613630;AEC-like syndrome 25691407;20961246;10195895;10195896;29523099;28513979 False 2 0;100;0 1.313 True ENSG00000213341 ENSG00000213341 HGNC:1974 CLPP gene CLPP Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 23541340 False 2 0;100;0 1.313 True ENSG00000125656 ENSG00000125656 HGNC:2084 CNOT1 gene CNOT1 Expert list;Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 12, with or without pancreatic agenesis, 618500;Vissers-Bodmer syndrome, MIM#619033 31006510;21679367;31006513;32553196 False 2 75;25;0 1.313 True Other - please provide details in the comments ENSG00000125107 ENSG00000125107 HGNC:7877 CNTN1 gene CNTN1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 32779773;19026398 False 2 0;100;0 1.313 True ENSG00000018236 ENSG00000018236 HGNC:2171 COX10 gene COX10 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 10767350;12928484;15455402;27290639 False 2 0;100;0 1.313 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 21412973;33746038;32232962 False 2 0;100;0 1.313 True ENSG00000014919 ENSG00000014919 HGNC:2263 CRELD1 gene CRELD1 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 22740159 False 2 0;100;0 1.313 True ENSG00000163703 ENSG00000163703 HGNC:14630 CYB5R3 gene CYB5R3 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Methaemoglobinemia, type II, MIM# 250800 False 2 0;100;0 1.313 True ENSG00000100243 ENSG00000100243 HGNC:2873 DAG1 gene DAG1 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) 25934851;24052401;29337005 False 2 0;50;50 1.313 True ENSG00000173402 ENSG00000173402 HGNC:2666 DBR1 gene DBR1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis (MONDO#0019269), DBR1-related 37656279 False 2 0;100;0 1.313 True ENSG00000138231 ENSG00000138231 HGNC:15594 DCAF15 gene DCAF15 Expert Review Amber;Other Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related False 2 0;100;0 1.313 True ENSG00000132017 ENSG00000132017 HGNC:25095 DCDC2 gene DCDC2 Expert Review Amber;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM# 616217 25557784;31821705 False 2 0;100;0 1.313 True ENSG00000146038 ENSG00000146038 HGNC:18141 DHTKD1 gene DHTKD1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MIM#204750;Disorders of histidine, tryptophan or lysine metabolism 23141294;29661920;28902413;27604308;23141293;25860818 False 2 0;100;0 1.313 True ENSG00000181192 ENSG00000181192 HGNC:23537 DNAH1 gene DNAH1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Situs inversus;primary ciliary dyskinesia, MIM#617577;infertility, MIM#617576 25927852;31507630 False 2 0;100;0 1.313 True ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH6 gene DNAH6 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy 26918822 False 2 0;100;0 1.313 True ENSG00000115423 ENSG00000115423 HGNC:2951 DNAL1 gene DNAL1 Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, MIM# 614017 21496787 False 2 0;100;0 1.313 True ENSG00000119661 ENSG00000119661 HGNC:23247 DOLK gene DOLK Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 17273964;22242004;23890587;30653653;28816422;24144945 False 2 0;100;0 1.313 True ENSG00000175283 ENSG00000175283 HGNC:23406 DSG1 gene DSG1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) 26288349;19558595;29315490;31192455;23974871;29229434;33666035 False 2 50;50;0 1.313 True ENSG00000134760 ENSG00000134760 HGNC:3048 DZIP1L gene DZIP1L Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, 617610 28530676 False 2 50;50;0 1.313 True ENSG00000158163 ENSG00000158163 HGNC:26551 EDN1 gene EDN1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Auriculocondylar syndrome 3, MIM# 615706 False 2 0;100;0 1.313 True ENSG00000078401 ENSG00000078401 HGNC:3176 EFNA4 gene EFNA4 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 29215649;29168297;16540516 False 2 0;100;0 1.313 True ENSG00000243364 ENSG00000243364 HGNC:3224 EIF2B3 gene EIF2B3 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 28597716 False 2 0;100;0 1.313 True ENSG00000070785 ENSG00000070785 HGNC:3259 EMG1 gene EMG1 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, MIM#211180 19463982 False 2 0;100;0 1.313 True Other ENSG00000126749 ENSG00000126749 HGNC:16912 EMX2 gene EMX2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 1.313 True ENSG00000170370 ENSG00000170370 HGNC:3341 ENPP1 gene ENPP1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, MIM3 208000;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 19521093 False 2 0;100;0 1.313 True ENSG00000197594 ENSG00000197594 HGNC:3356 ERCC6L2 gene ERCC6L2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM# 615715 24507776;27185855 False 2 0;100;0 1.313 True ENSG00000182150 ENSG00000182150 HGNC:26922 ESRP2 gene ESRP2 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip 29805042 False 2 0;100;0 1.313 True ENSG00000103067 ENSG00000103067 HGNC:26152 FAM92A gene FAM92A Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A9 - MIM#618219 30395363 False 2 0;100;0 1.313 True ENSG00000188343 ENSG00000188343 HGNC:30452 FGF20 gene FGF20 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 22698282;23112089 False 2 0;100;0 1.313 True ENSG00000078579 ENSG00000078579 HGNC:3677 FIBP gene FIBP Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome - MIM#617107 27183861;26660953 False 2 0;100;0 1.313 True ENSG00000172500 ENSG00000172500 HGNC:3705 FKBP8 gene FKBP8 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spina bifida, MONDO:0008449 29261186;32969478 False 2 0;50;50 1.313 True ENSG00000105701 ENSG00000105701 HGNC:3724 FMN1 gene FMN1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal oligosyndactyly;radioulnar synostosis;hearing loss;renal defects 20610440;19383632;15202026 False 2 0;100;0 1.313 True ENSG00000248905 ENSG00000248905 HGNC:3768 FN1 gene FN1 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondylometaphyseal dysplasia, corner fracture type (MIM#184255) 29100092;33605604 False 2 50;50;0 1.313 True ENSG00000115414 ENSG00000115414 HGNC:3778 FOXH1 gene FOXH1 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease;holoprosencephaly 19933292;18538293;19525021;32003456;12094232;16304598 False 2 0;100;0 1.313 True ENSG00000160973 ENSG00000160973 HGNC:3814 FOXP4 gene FOXP4 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multiple congenital abnormalities;Neurodevelopmental disorder 33110267 False 2 0;100;0 1.313 True ENSG00000137166 ENSG00000137166 HGNC:20842 FRMD4A gene FRMD4A Expert Review;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 30266093;25388005;30214071 False 2 0;100;0 1.313 True ENSG00000151474 ENSG00000151474 HGNC:25491 FZD5 gene FZD5 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia/coloboma 11, MIM# 620731 32737437;26908622 False 2 0;100;0 1.313 True ENSG00000163251 ENSG00000163251 HGNC:4043 FZD6 gene FZD6 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops fetalis, MONDO:0015193, FZD6-related 33082562;26036949;28425981 False 2 0;100;0 1.313 True ENSG00000164930 ENSG00000164930 HGNC:4044 GALNT2 gene GALNT2 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt OMIM:618885 27508872;32293671 False 2 0;100;0 1.313 True ENSG00000143641 ENSG00000143641 HGNC:4124 GATA2 gene GATA2 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emberger syndrome, MIM# 614038 21892158 False 2 0;100;0 1.313 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA5 gene GATA5 Expert list;Expert Review Amber;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 5 - MIM#617912 28180938;27066509;34461831;30229885;28285006;25543888;25515806;24796370;23295592;23289003;22961344 False 2 0;100;0 1.313 True ENSG00000130700 ENSG00000130700 HGNC:15802 GATAD2A gene GATAD2A Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related https://doi.org/10.1016/j.xhgg.2023.100198;17565372 False 2 0;100;0 1.313 True ENSG00000167491 ENSG00000167491 HGNC:29989 GATAD2B gene GATAD2B Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GAND syndrome, MIM# 615074 31949314 False 2 50;50;0 1.313 True ENSG00000143614 ENSG00000143614 HGNC:30778 GLDC gene GLDC Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy (MIM#605899) 27604308;2246863;1634607 False 2 0;100;0 1.313 True ENSG00000178445 ENSG00000178445 HGNC:4313 GM2A gene GM2A Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant MIM#272750 28417072;28192816;27402091 False 2 50;50;0 1.313 True ENSG00000196743 ENSG00000196743 HGNC:4367 GNPNAT1 gene GNPNAT1 Expert Review;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Rhizomelic dysplasia, Ain-Naz type, MIM#619598 36097642;35427807;32591345 False 2 0;100;0 1.313 True ENSG00000100522 ENSG00000100522 HGNC:19980 GOLGA2 gene GOLGA2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 34424553;26742501;30237576 False 2 50;50;0 1.313 True ENSG00000167110 ENSG00000167110 HGNC:4425 GON7 gene GON7 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 9, MIM# 619603 31481669 False 2 50;50;0 1.313 True ENSG00000170270 ENSG00000170270 HGNC:20356 GRHL2 gene GRHL2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/short stature syndrome MIM#616029 27612988;19415813;25152456 False 2 50;50;0 1.313 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRIA3 gene GRIA3 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) 32977175;17989220 False 2 50;50;0 1.313 True ENSG00000125675 ENSG00000125675 HGNC:4573 GRIK2 gene GRIK2 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 34375587;17847003;25039795 False 2 50;50;0 1.313 True ENSG00000164418 ENSG00000164418 HGNC:4580 GRK2 gene GRK2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 33200460 False 2 0;100;0 1.313 True ENSG00000173020 ENSG00000173020 HGNC:289 HACE1 gene HACE1 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756;MONDO:0014764 26424145;26437029;31321300 False 2 0;100;0 1.313 True ENSG00000085382 ENSG00000085382 HGNC:21033 HAND1 gene HAND1 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 31286141;29016838;29317578;29179274;28112363;27942761;26581070 False 2 0;100;0 1.313 True ENSG00000113196 ENSG00000113196 HGNC:4807 HAND2 gene HAND2 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453, HAND2-related 26865696;32134193;26676105 False 2 0;100;0 1.313 True ENSG00000164107 ENSG00000164107 HGNC:4808 HDAC4 gene HDAC4 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly mental retardation syndrome;Brachydactyly without intellectual disability 24715439;20691407;31209962;33537682 False 2 50;50;0 1.313 True ENSG00000068024 ENSG00000068024 HGNC:14063 HOXA11 gene HOXA11 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432 PubMed: 11101832 False 2 0;100;0 1.313 True ENSG00000005073 ENSG00000005073 HGNC:5101 HOXD12 gene HOXD12 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot (non-syndromic) MONDO:0007342 38663984 False 2 0;100;0 1.313 True ENSG00000170178 ENSG00000170178 HGNC:5135 HSD17B10 gene HSD17B10 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females HSD10 mitochondrial disease, MIM# 300438 False 2 0;100;0 1.313 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSF4 gene HSF4 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 5, multiple types MIM#116800 False 2 50;50;0 1.313 True ENSG00000102878 ENSG00000102878 HGNC:5227 IFT81 gene IFT81 Expert Review Amber;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485;Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895 30080953;26275418;32783357;27666822 False 2 0;50;50 1.313 True ENSG00000122970 ENSG00000122970 HGNC:14313 INPP5K gene INPP5K Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 28190456;28190459;28940338;31630891;33193651;33792664 False 2 0;100;0 1.313 True ENSG00000132376 ENSG00000132376 HGNC:33882 ISLR2 gene ISLR2 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;arthrogryposis 30483960 False 2 0;100;0 1.313 True ENSG00000167178 ENSG00000167178 HGNC:29286 ITGAV gene ITGAV Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related 39526957 False 2 0;100;0 1.313 True ENSG00000138448 ENSG00000138448 HGNC:6150 JAGN1 gene JAGN1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022) 25129144 False 2 0;100;0 1.313 True ENSG00000171135 ENSG00000171135 HGNC:26926 KCNJ11 gene KCNJ11 Expert Review Amber;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal 3 (MIM#610582);Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856) 15115830;17327377 False 2 0;100;0 1.313 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCTD1 gene KCTD1 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Scalp-ear-nipple syndrome MIM#181270 23541344;31324836 False 2 0;0;100 1.313 True ENSG00000134504 ENSG00000134504 HGNC:18249 KIF21A gene KIF21A Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Severe fetal akinesia with arthrogryposis multiplex PMID: 34740919 False 2 0;100;0 1.313 False ENSG00000139116 ENSG00000139116 HGNC:19349 KMT2E gene KMT2E Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown O'Donnell-Luria-Rodan syndrome MIM#618512 31079897;33111303 False 2 50;50;0 1.313 True ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 41 (MIM#615637) 24239382;32358097;32808430 False 2 0;100;0 1.313 True ENSG00000118162 ENSG00000118162 HGNC:6404 KRIT1 gene KRIT1 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cavernous malformations of CNS and retina MIM#116860;Cerebral cavernous malformations-1 MIM#116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 28749478;34556564;20301470 False 2 0;0;100 1.313 True ENSG00000001631 ENSG00000001631 HGNC:1573 LAMB2 gene LAMB2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pierson syndrome-MIM#609049;Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199 16450351 False 2 0;100;0 1.313 True ENSG00000172037 ENSG00000172037 HGNC:6487 LINGO1 gene LINGO1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64 - MIM#618103 28837161;31668702 False 2 0;100;0 1.313 True ENSG00000169783 ENSG00000169783 HGNC:21205 LINS1 gene LINS1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 27 (MIM#614340);autosomal recessive intellectual disability (MIM#614340) 23773660;21937992;32499722;28181389 False 2 0;100;0 1.313 True ENSG00000140471 ENSG00000140471 HGNC:30922 LMOD1 gene LMOD1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 28292896 False 2 0;100;0 1.313 True ENSG00000163431 ENSG00000163431 HGNC:6647 LOXL3 gene LOXL3 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Stickler syndrome;cleft lip/palate 25663169;26307084;26957899;29802726;30362103;34787502 False 2 0;100;0 1.313 True ENSG00000115318 ENSG00000115318 HGNC:13869 LRP6 gene LRP6 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tooth agenesis, selective, 7 - MIM#616724;cleft lip/palate 16126904;30950205;26387593;26963285;28813618;29500247;33164649;34306029 False 2 0;100;0 1.313 True ENSG00000070018 ENSG00000070018 HGNC:6698 LRPPRC gene LRPPRC Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 32972427;26510951;21266382 False 2 0;100;0 1.313 True ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC32 gene LRRC32 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074 30976112 False 2 0;100;0 1.313 True ENSG00000137507 ENSG00000137507 HGNC:4161 MAFB gene MAFB Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multicentric carpotarsal osteolysis syndrome (MIM#166300) 23956186;30208859 False 2 0;100;0 1.313 True ENSG00000204103 ENSG00000204103 HGNC:6408 MBOAT7 gene MBOAT7 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual disability MIM#617188 33335874;32645526;32744787;31852446;31282596;30701556 False 2 0;100;0 1.313 True ENSG00000125505 ENSG00000125505 HGNC:15505 MCM7 gene MCM7 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome;Microcephaly;Intellectual disability;Lipodystrophy;Adrenal insufficiency 33654309;34059554 False 2 0;100;0 1.313 True ENSG00000166508 ENSG00000166508 HGNC:6950 MED11 gene MED11 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 36001086 False 2 0;100;0 1.313 True ENSG00000161920 ENSG00000161920 HGNC:32687 MESP1 gene MESP1 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 28677747;28050627;27185833;26694203 False 2 0;100;0 1.313 True ENSG00000166823 ENSG00000166823 HGNC:29658 MFN2 gene MFN2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MFN2-related PMID: 37804319 False 2 0;100;0 1.313 True ENSG00000116688 ENSG00000116688 HGNC:16877 MGAT2 gene MGAT2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 8808595;11228641;22105986;33044030;31420886 False 2 0;100;0 1.313 True ENSG00000168282 ENSG00000168282 HGNC:7045 MIA3 gene MIA3 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 PMID: 32101163;33778321 False 2 0;100;0 1.313 True ENSG00000154305 ENSG00000154305 HGNC:24008 MIB1 gene MIB1 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 33057194 False 2 0;100;0 1.313 True ENSG00000101752 ENSG00000101752 HGNC:21086 MIR17HG gene MIR17HG Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 2, MIM #614326 25391829;21892160 False 2 50;50;0 1.313 True ENSG00000215417 ENSG00000215417 HGNC:23564 MMP15 gene MMP15 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital heart disease 33875846 False 2 0;100;0 1.313 True ENSG00000102996 ENSG00000102996 HGNC:7161 MMP9 gene MMP9 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Metaphyseal anadysplasia 2 - MIM# 613073 19615667;28342220;34407464 False 2 50;50;0 1.313 True ENSG00000100985 ENSG00000100985 HGNC:7176 MRPS34 gene MRPS34 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32, MIM# 617664 28777931 False 2 0;100;0 1.313 True ENSG00000074071 ENSG00000074071 HGNC:16618 MYLK gene MYLK Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210 28602422 False 2 0;100;0 1.313 True ENSG00000065534 ENSG00000065534 HGNC:7590 MYLPF gene MYLPF Expert list;Expert Review Amber;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal arthrogryposis type 1C (DA1C), MIM#619110 32707087 False 2 0;100;0 1.313 True ENSG00000180209 ENSG00000180209 HGNC:29824 MYO9A gene MYO9A Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198;Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 27259756;29462312;26752647;31130284;30237576 False 2 50;50;0 1.313 True ENSG00000066933 ENSG00000066933 HGNC:7608 NAGA gene NAGA Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Kanzaki disease (MIM# 609242);Schindler disease, type I and type II (MIM#609241);alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779) 11313741;31468281;15619430;8782044 False 2 100;0;0 1.313 True ENSG00000198951 ENSG00000198951 HGNC:7631 NDUFA10 gene NDUFA10 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 21150889;26741492 False 2 0;100;0 1.313 True ENSG00000130414 ENSG00000130414 HGNC:7684 NEK9 gene NEK9 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660;NEK9-related lethal skeletal dysplasia, MONDO:0014870;Lethal congenital contracture syndrome 10, OMIM:617022;Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262 26908619;26633546;32333414;21271645 False 2 0;100;0 1.313 True ENSG00000119638 ENSG00000119638 HGNC:18591 NKX2-1 gene NKX2-1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978 23911641;11854319;24714694 False 2 50;50;0 1.313 True ENSG00000136352 ENSG00000136352 HGNC:11825 NMNAT2 gene NMNAT2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops fetalis and multiple fetal anomalies;polyneuropathy;erythromelalgia 31132363;23082226;31136762;25271157;20126265 False 2 0;100;0 1.313 True ENSG00000157064 ENSG00000157064 HGNC:16789 NODAL gene NODAL Expert Review;Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 5 (MIM#270100) 9354794;19064609;29368431;19933292;11311163;30293987 False 2 0;50;50 1.313 True ENSG00000156574 ENSG00000156574 HGNC:7865 NOG gene NOG Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type B2 (MIM#611377);Multiple synostoses syndrome 1 (MIM#186500);Stapes ankylosis with broad thumbs and toes (MIM#184460);Symphalangism, proximal, 1A (MIM#185800);Tarsal-carpal coalition syndrome (MIM#186570) 11846737;18440889;12089654;10080184;15066478;22088931;17381491 False 2 0;100;0 1.313 True ENSG00000183691 ENSG00000183691 HGNC:7866 NPC2 gene NPC2 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM# 607625 29928259 False 2 0;100;0 1.313 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPM1 gene NPM1 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, MONDO:0015780, NPM1-related 31570891 False 2 0;100;0 1.313 True ENSG00000181163 ENSG00000181163 HGNC:7910 NR0B1 gene NR0B1 Expert Review Amber;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) 46XY sex reversal 2, dosage-sensitive MIM#300018 7951319;23384712 False 2 0;100;0 1.313 True ENSG00000169297 ENSG00000169297 HGNC:7960 NSUN2 gene NSUN2 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5, MIM# 611091 33084202;22541559;22541562;22577224 False 2 0;100;0 1.313 True ENSG00000037474 ENSG00000037474 HGNC:25994 NT5C2 gene NT5C2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, MIM# 613162;MONDO:0013165 24482476;32153630;29123918;28884889;28327087 False 2 0;100;0 1.313 True ENSG00000076685 ENSG00000076685 HGNC:8022 NUAK2 gene NUAK2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anencephaly 2, OMIM #619452 22689267;32845958 False 2 0;50;50 1.313 True ENSG00000163545 ENSG00000163545 HGNC:29558 NUDCD2 gene NUDCD2 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies (MONDO:0019042), NUDCD2-related 37272762 False 2 0;100;0 1.313 True ENSG00000170584 ENSG00000170584 HGNC:30535 NUP85 gene NUP85 Expert Review;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, MONDO:0001149, NUP85-related 34170319 False 2 0;100;0 1.313 True ENSG00000125450 ENSG00000125450 HGNC:8734 NUS1 gene NUS1 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1aa, MIM#617082 31656175;29100083;25066056 False 2 0;100;0 1.313 True ENSG00000153989 ENSG00000153989 HGNC:21042 OXR1 gene OXR1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000 PMID: 31785787 False 2 50;50;0 1.313 True ENSG00000164830 ENSG00000164830 HGNC:15822 PAX8 gene PAX8 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700;Mayer-Rokitansky-K ster-Hauser syndrome (MRKHS) 33434492 False 2 0;100;0 1.313 True ENSG00000125618 ENSG00000125618 HGNC:8622 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, MIM# 620047 32286682 False 2 0;100;0 1.313 True ENSG00000170248 ENSG00000170248 HGNC:8766 PDHB gene PDHB Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 26865159;15138885;26014431 False 2 0;100;0 1.313 True ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lactic acidaemia due to PDX1 deficiency MIM#245349 20002125;34873726;33092611;30981218;25087164;22766002 False 2 0;100;0 1.313 True ENSG00000110435 ENSG00000110435 HGNC:21350 PDIA6 gene PDIA6 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 1.313 True ENSG00000143870 ENSG00000143870 HGNC:30168 PGM3 gene PGM3 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal PGM3-CDG, MONDO:0014353;Immunodeficiency 23, OMIM:615816 28543917;24931394;30578875;31231132;33098103;30157810;28704707 False 2 0;100;0 1.313 True ENSG00000013375 ENSG00000013375 HGNC:8907 PIGG gene PIGG Expert Review;Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 53, MIM#616917 26996948 False 2 0;100;0 1.313 True ENSG00000174227 ENSG00000174227 HGNC:25985 PIGY gene PIGY Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 26293662 False 2 0;100;0 1.313 True ENSG00000255072 ENSG00000255072 HGNC:28213 PJA1 gene PJA1 Expert Review Amber;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Trigonocephaly, intellectual disability 32530565 False 2 0;100;0 1.313 True ENSG00000181191 ENSG00000181191 HGNC:16648 PLCH1 gene PLCH1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 33820834 False 2 0;100;0 1.313 True ENSG00000114805 ENSG00000114805 HGNC:29185 PLEKHA5 gene PLEKHA5 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip;cleft palate 29805042 False 2 0;100;0 1.313 True ENSG00000052126 ENSG00000052126 HGNC:30036 PLEKHA7 gene PLEKHA7 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate 29805042 False 2 0;100;0 1.313 True ENSG00000166689 ENSG00000166689 HGNC:27049 PLK1 gene PLK1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy;microcephaly;intellectual disability 33875846 False 2 0;100;0 1.313 True ENSG00000166851 ENSG00000166851 HGNC:9077 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Oliver-McFarlane syndrome - MIM#275400 35069422;33818269;25299038;33210227;33141049;32758583;32586184 False 2 0;100;0 1.313 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLG-related disorders 20301791;29358615;22405928;29574624 False 2 0;100;0 1.313 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPP1R15B gene PPP1R15B Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 26159176;26307080;27640355 False 2 0;100;0 1.313 True ENSG00000158615 ENSG00000158615 HGNC:14951 PPP2R5C gene PPP2R5C Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macrocephaly;overgrowth 25972378 False 2 0;100;0 1.313 True ENSG00000078304 ENSG00000078304 HGNC:9311 PPP3CA gene PPP3CA Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265 29432562;28942967;28942967 False 2 0;100;0 1.313 True ENSG00000138814 ENSG00000138814 HGNC:9314 PRDM15 gene PRDM15 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Holoprosenephaly;Steroid resistant nephrotic syndrome;Multiple congenital anomalies PMID: 31950080 False 2 0;100;0 1.313 True ENSG00000141956 ENSG00000141956 HGNC:13999 PRDM6 gene PRDM6 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Patent ductus arteriosus 3 - MIM#617039 27181681 False 2 33;33;33 1.313 True ENSG00000061455 ENSG00000061455 HGNC:9350 PREPL gene PREPL Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 22, MIM#616224;Hypotonia-cystinuria syndrome 29483676;28726805;24610330;27472506 False 2 0;100;0 1.313 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRIM1 gene PRIM1 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 33060134 False 2 0;100;0 1.313 True ENSG00000198056 ENSG00000198056 HGNC:9369 PRPS1 gene PRPS1 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome MIM#301835 32781272;24961627 False 2 0;100;0 1.313 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSAP gene PSAP Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency, MIM# 611721 False 2 0;100;0 1.313 True ENSG00000197746 ENSG00000197746 HGNC:9498 PTEN gene PTEN Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly/autism syndrome, MIM# 605309 32959437 False 2 50;50;0 1.313 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTHLH gene PTHLH Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachydactyly, type E2, MIM# 613382 False 2 0;100;0 1.313 True ENSG00000087494 ENSG00000087494 HGNC:9607 PURA gene PURA Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) 25439098;25342064;12972605 False 2 0;100;0 1.313 True ENSG00000185129 ENSG00000185129 HGNC:9701 PUS7 gene PUS7 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature;OMIM #618342 30526862;30778726;31583274 False 2 0;50;50 1.313 True ENSG00000091127 ENSG00000091127 HGNC:26033 QRICH1 gene QRICH1 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ververi-Brady syndrome, MIM#617982 28692176;30281152;33009816 False 2 0;100;0 1.313 True ENSG00000198218 ENSG00000198218 HGNC:24713 RASA2 gene RASA2 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 25049390 False 2 0;100;0 1.313 True ENSG00000155903 ENSG00000155903 HGNC:9872 RFT1 gene RFT1 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, OMIM:612015;RFT1-CDG, MONDO:0012783 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 2 0;100;0 1.313 True ENSG00000163933 ENSG00000163933 HGNC:30220 RFWD3 gene RFWD3 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group W, OMIM:617784 28691929 False 2 0;50;50 1.313 True ENSG00000168411 ENSG00000168411 HGNC:25539 RNASET2 gene RNASET2 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly MIM#612951 31349848;19525954;27091087;29336640;18545798;15851732 False 2 0;100;0 1.313 True ENSG00000026297 ENSG00000026297 HGNC:21686 ROBO4 gene ROBO4 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 3- MIM#618496 30455415 False 2 50;50;0 1.313 True ENSG00000154133 ENSG00000154133 HGNC:17985 RORA gene RORA Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060 29656859 False 2 0;100;0 1.313 True ENSG00000069667 ENSG00000069667 HGNC:10258 RPS23 gene RPS23 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 28257692 False 2 0;100;0 1.313 True ENSG00000186468 ENSG00000186468 HGNC:10410 RPS28 gene RPS28 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 24942156 False 2 0;100;0 1.313 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13 - MIM#615909 24829207 False 2 0;100;0 1.313 True ENSG00000213741 ENSG00000213741 HGNC:10419 RRAS gene RRAS Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 24705357 False 2 0;100;0 1.313 True ENSG00000126458 ENSG00000126458 HGNC:10447 RREB1 gene RREB1 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy, MONDO:0021060, RREB1-related 32938917;38332451 False 2 0;100;0 1.313 True ENSG00000124782 ENSG00000124782 HGNC:10449 RSPRY1 gene RSPRY1 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 26365341 False 2 0;100;0 1.313 True ENSG00000159579 ENSG00000159579 HGNC:29420 SCYL2 gene SCYL2 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766 31960134;26203146 False 2 0;100;0 1.313 True ENSG00000136021 ENSG00000136021 HGNC:19286 SDHA gene SDHA Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1GG (MIM#613642);Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011) 20551992;22972948;12794685 False 2 0;100;0 1.313 True ENSG00000073578 ENSG00000073578 HGNC:10680 SEMA3E gene SEMA3E Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome - MIM#214800 31691538;31464029;15235037 False 2 0;100;0 1.313 True ENSG00000170381 ENSG00000170381 HGNC:10727 SHROOM3 gene SHROOM3 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anencephaly;cleft lip and palate 32621286 False 2 0;50;50 1.313 True ENSG00000138771 ENSG00000138771 HGNC:30422 SIK3 gene SIK3 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Krakow type, 618162 30232230;22318228 False 2 0;100;0 1.313 True ENSG00000160584 ENSG00000160584 HGNC:29165 SIX6 gene SIX6 Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550;Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927 23167593;24702266;33108933;31207931;24702266 False 2 0;100;0 1.313 True ENSG00000184302 ENSG00000184302 HGNC:10892 SLC16A2 gene SLC16A2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523 15980113;31410843;20301789 False 2 0;100;0 1.313 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC18A3 gene SLC18A3 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239;Congenital myasthenic syndrome 21, MONDO:0014983 31059209;28188302;27590285 False 2 0;100;0 1.313 True ENSG00000187714 ENSG00000187714 HGNC:10936 SLC25A20 gene SLC25A20 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM#212138 34784499;32337051 False 2 0;100;0 1.313 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A26 gene SLC25A26 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28 (MIM#616794) 26522469 False 2 0;100;0 1.313 True ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A38 gene SLC25A38 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950 19412178;31338833;34298585 False 2 0;50;50 1.313 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC30A5 gene SLC30A5 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Perinatal lethal cardiomyopathy 33547425;12095919 False 2 0;100;0 1.313 True ENSG00000145740 ENSG00000145740 HGNC:19089 SLC31A1 gene SLC31A1 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 PMID: 35913762;36562171 False 2 0;100;0 1.313 True ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 28856833;23873973;11157507 False 2 0;100;0 1.313 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35C1 gene SLC35C1 Expert Review Amber;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 11326279;12116250;33098347;32313197;24403049 False 2 0;100;0 1.313 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC37A4 gene SLC37A4 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib 232220;Congenital disorder of glycosylation, type IIw 619525 32884905;33728255;33964207 False 2 33;33;33 1.313 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC6A8 gene SLC6A8 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1 (MIM#300352) 11898126;16738945;16086185 False 2 0;100;0 1.313 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLIT2 gene SLIT2 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT;vesicoureteric reflux 26026792;15130495 False 2 0;100;0 1.313 True ENSG00000145147 ENSG00000145147 HGNC:11086 SLIT3 gene SLIT3 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital diaphragmatic hernia 33933663 False 2 0;100;0 1.313 True ENSG00000184347 ENSG00000184347 HGNC:11087 SNAP25 gene SNAP25 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myasthenic syndrome, congenital, 18, MIM# 616330;Developmental and epileptic encephalopathy 25381298;25003006;29100083;28135719 False 2 50;50;0 1.313 True ENSG00000132639 ENSG00000132639 HGNC:11132 SNX14 gene SNX14 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) 25848753;25439728 False 2 0;100;0 1.313 True ENSG00000135317 ENSG00000135317 HGNC:14977 SOX3 gene SOX3 Expert Review Amber;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) Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 29175558;30125608;12428212;15800844;33811808;23505376;19654509 False 2 0;100;0 1.313 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134595 ENSG00000134595 HGNC:11199 SPG11 gene SPG11 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, MIM# 604360 33581793 False 2 0;100;0 1.313 True ENSG00000104133 ENSG00000104133 HGNC:11226 SRGAP1 gene SRGAP1 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomalies of the kidney and urinary tract 26026792 False 2 0;100;0 1.313 True ENSG00000196935 ENSG00000196935 HGNC:17382 SRPK3 gene SRPK3 Expert Review Amber;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, 114, MIM#301134 39073169 False 2 0;100;0 1.313 True ENSG00000184343 ENSG00000184343 HGNC:11402 STAT5B gene STAT5B Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590 False 2 0;50;50 1.313 True ENSG00000173757 ENSG00000173757 HGNC:11367 STX5 gene STX5 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation MONDO#0015286, STX5-related 34711829 False 2 0;100;0 1.313 True ENSG00000162236 ENSG00000162236 HGNC:11440 TAF13 gene TAF13 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 60, MIM# 617432;Microcephaly 28257693 False 2 0;100;0 1.313 True ENSG00000197780 ENSG00000197780 HGNC:11546 TAPT1 gene TAPT1 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) False 2 0;100;0 1.313 True ENSG00000169762 ENSG00000169762 HGNC:26887 TBC1D23 gene TBC1D23 Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, MIM# 617695 28823707;28823706 False 2 0;100;0 1.313 True ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D7 gene TBC1D7 Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000 23687350;24515783;36669495 False 2 50;50;0 1.313 True ENSG00000145979 ENSG00000145979 HGNC:21066 TBL1XR1 gene TBL1XR1 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 41, MIM# 616944;Pierpont syndrome, MIM# 602342 26769062;30365874;25425123;9450851;23160955;28687524;23176139;16007632 False 2 0;100;0 1.313 True ENSG00000177565 ENSG00000177565 HGNC:29529 TBR1 gene TBR1 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, MIM# 606053 25232744;30250039 False 2 0;100;0 1.313 True ENSG00000136535 ENSG00000136535 HGNC:11590 TBX2 gene TBX2 Expert list;Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223;Congenital heart disease;skeletal abnormalities;thymus aplasia 29726930 False 2 50;50;0 1.313 True ENSG00000121068 ENSG00000121068 HGNC:11597 TECPR2 gene TECPR2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031;Autonomic-sensory neuropathy;Intellectual disability 23176824;26542466 False 2 0;100;0 1.313 True ENSG00000196663 ENSG00000196663 HGNC:19957 TERT gene TERT Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM #613989;Hoyeraal-Hreidarsson syndrome 18042801;17785587 False 2 50;50;0 1.313 True ENSG00000164362 ENSG00000164362 HGNC:11730 THRB gene THRB Expert Review Amber;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thyroid hormone resistance, autosomal recessive - MIM#274300;Thyroid hormone resistance - MIM#188570;Thyroid hormone resistance, selective pituitary - MIM#145650 35130567;30430796;30074255;28938413;4163616 False 2 50;50;0 1.313 True ENSG00000151090 ENSG00000151090 HGNC:11799 TKT gene TKT Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects;OMIM #617044 27259054 False 2 50;50;0 1.313 True ENSG00000163931 ENSG00000163931 HGNC:11834 TMEM126B gene TMEM126B Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250) 27374774;27374773 False 2 0;100;0 1.313 True ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM70 gene TMEM70 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 21147908;23235116;27454254 False 2 0;100;0 1.313 True ENSG00000175606 ENSG00000175606 HGNC:26050 TNNI1 gene TNNI1 Expert Review Amber;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis MONDO:0008779, TNNI1-related 34934811 False 2 0;100;0 1.313 True ENSG00000159173 ENSG00000159173 HGNC:11945 TOPORS gene TOPORS Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal MONDO:0005308;ciliopathy;postaxial polydactyly;multiple lingual hamartomas;dysmorphic features 34132027 False 2 0;100;0 1.313 True ENSG00000197579 ENSG00000197579 HGNC:21653 TRIP13 gene TRIP13 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 28553959 False 2 0;100;0 1.313 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRMT10C gene TRMT10C Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 30, MIM# 616974 27132592 False 2 0;50;50 1.313 True ENSG00000174173 ENSG00000174173 HGNC:26022 TRPM7 gene TRPM7 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac arrhythmia, stillbirth 32503408;31423533 False 2 0;50;50 1.313 True ENSG00000092439 ENSG00000092439 HGNC:17994 UNC50 gene UNC50 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 29016857;33820833 False 2 0;100;0 1.313 True ENSG00000115446 ENSG00000115446 HGNC:16046 UNC80 gene UNC80 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777 26708751;26708753;26545877;32620897;30167850;30167850 False 2 33;33;33 1.313 True ENSG00000144406 ENSG00000144406 HGNC:26582 VEGFC gene VEGFC Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 4, MIM# 615907 False 2 0;50;50 1.313 True ENSG00000150630 ENSG00000150630 HGNC:12682 VPS13B gene VPS13B Expert Review;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cohen syndrome (MIM# 216550) 20683995 False 2 0;100;0 1.313 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS50 gene VPS50 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 34037727;38876772 False 2 0;100;0 1.313 True ENSG00000004766 ENSG00000004766 HGNC:25956 VPS51 gene VPS51 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 13, MIM# 618606 PMID: 30624672;31207318 False 2 0;100;0 1.313 True ENSG00000149823 ENSG00000149823 HGNC:1172 WDR11 gene WDR11 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Microcephaly;Short stature 34413497 False 2 0;67;33 1.313 True ENSG00000120008 ENSG00000120008 HGNC:13831 WDR26 gene WDR26 Expert Review Amber;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Skraban-Deardorff syndrome, MIM#617616;Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 28686853;33506510;33675273 False 2 50;50;0 1.313 True ENSG00000162923 ENSG00000162923 HGNC:21208 WDR81 gene WDR81 Expert list;Expert Review Amber;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794;Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967 28556411 False 2 0;100;0 1.313 True ENSG00000167716 ENSG00000167716 HGNC:26600 WDR91 gene WDR91 Expert Review Amber;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephaly;Hygroma 32732226;34028500;28860274 False 2 0;100;0 1.313 True ENSG00000105875 ENSG00000105875 HGNC:24997 WNT4 gene WNT4 Expert Review Amber;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mullerian aplasia and hyperandrogenism (MIM#158330);SERKAL syndrome, OMIM #611812 22503279;21377155;16959810;18179883;15317892;18182450 False 2 50;50;0 1.313 True ENSG00000162552 ENSG00000162552 HGNC:12783 WNT9B gene WNT9B Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia, no OMIM # 34145744 False 2 0;100;0 1.313 True ENSG00000158955 ENSG00000158955 HGNC:12779 ZBTB42 gene ZBTB42 Expert list;Expert Review Amber;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 6- #616248 25055871 False 2 0;100;0 1.313 True ENSG00000179627 ENSG00000179627 HGNC:32550 ZDHHC9 gene ZDHHC9 Expert Review Amber;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Raymond type, MIM# 300799 False 2 0;50;50 1.313 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZNF423 gene ZNF423 Expert list;Expert Review;Expert Review Amber;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19 614844;Nephronophthisis 14 614844 22863007 False 2 0;100;0 1.313 True Other ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF668 gene ZNF668 Expert list;Expert Review Amber Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 PMID: 34313816;26633546 False 2 0;100;0 1.313 True ENSG00000167394 ENSG00000167394 HGNC:25821