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 AARS gene AARS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 28493438;25817015 False 3 100;0;0 1.313 True ENSG00000090861 ENSG00000090861 HGNC:20 ABCA12 gene ABCA12 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500 False 3 100;0;0 1.313 True ENSG00000144452 ENSG00000144452 HGNC:14637 ABCC6 gene ABCC6 Expert Review Green;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 2, MIM# 614473 False 3 100;0;0 1.313 True ENSG00000091262 ENSG00000091262 HGNC:57 ABCC9 gene ABCC9 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrichotic osteochondrodysplasia, MIM# 239850 False 3 100;0;0 1.313 True ENSG00000069431 ENSG00000069431 HGNC:60 ABHD16A gene ABHD16A Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735 False 3 100;0;0 1.313 True ENSG00000204427 ENSG00000204427 HGNC:13921 ABL1 gene ABL1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and skeletal malformations syndrome, MONDO:0060532;Congenital heart defects and skeletal malformations, OMIM:617602 33461977;28288113 False 3 100;0;0 1.313 True ENSG00000097007 ENSG00000097007 HGNC:76 ACAD9 gene ACAD9 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 26475292 False 3 100;0;0 1.313 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADVL gene ACADVL Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, MIM# 201475 False 3 100;0;0 1.313 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAN gene ACAN Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800 24762113;27870580;19110214;30124491;28331218;20137779 False 3 100;0;0 1.313 True ENSG00000157766 ENSG00000157766 HGNC:319 ACE gene ACE Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 30058238;16116425;22095942 False 3 100;0;0 1.313 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACOX1 gene ACOX1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 False 3 100;0;0 1.313 True ENSG00000161533 ENSG00000161533 HGNC:119 ACP5 gene ACP5 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944 26854080;26951490;21217755;26789720;2363422;21217752 False 3 100;0;0 1.313 True ENSG00000102575 ENSG00000102575 HGNC:124 ACSL4 gene ACSL4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 63 , MIM#300387 12525535 False 3 100;0;0 1.313 True ENSG00000068366 ENSG00000068366 HGNC:3571 ACTA1 gene ACTA1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800;Nemaline myopathy 3, MIM#161800;Myopathy, actin, congenital, with cores, MIM#161800 30266093 False 3 100;0;0 1.313 True ENSG00000143632 ENSG00000143632 HGNC:129 ACTA2 gene ACTA2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multisystemic smooth muscle dysfunction syndrome - MIM# 613834 20734336;29300374 False 3 100;0;0 1.313 True ENSG00000107796 ENSG00000107796 HGNC:130 ACTB gene ACTB Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM#243310 False 3 100;0;0 1.313 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 5, MIM# 612794;Cardiomyopathy, hypertrophic, 11 MIM# 612098 24461919;31430208;17947298 False 3 100;0;0 1.313 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTG1 gene ACTG1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, MIM#614583 False 3 100;0;0 1.313 True ENSG00000184009 ENSG00000184009 HGNC:144 ACTG2 gene ACTG2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 31070878;25998219;30712878 False 3 100;0;0 1.313 True Other ENSG00000163017 ENSG00000163017 HGNC:145 ACVR1 gene ACVR1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva, MIM# 135100;Congenital heart disease 16642017;29089047 False 3 100;0;0 1.313 True ENSG00000115170 ENSG00000115170 HGNC:171 ACVRL1 gene ACVRL1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 32170914;26126400;21988128 False 3 100;0;0 1.313 True ENSG00000139567 ENSG00000139567 HGNC:175 ACY1 gene ACY1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency, MIM# 609924 False 3 100;0;0 1.313 True ENSG00000243989 ENSG00000243989 HGNC:177 ADAMTS10 gene ADAMTS10 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, MIM#277600 18567016 False 3 100;0;0 1.313 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS15 gene ADAMTS15 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 12, MIM# 620545 35962790 False 3 100;0;0 1.313 True ENSG00000166106 ENSG00000166106 HGNC:16305 ADAMTS17 gene ADAMTS17 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani 4 syndrome, recessive, MIM# 613195 19836009;22486325;30712880;24940034 False 3 100;0;0 1.313 True ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTS19 gene ADAMTS19 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 2, MIM# 620067 32323311;31844321 False 3 100;0;0 1.313 True ENSG00000145808 ENSG00000145808 HGNC:17111 ADAMTS3 gene ADAMTS3 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154;Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564 30450763;28985353 False 3 100;0;0 1.313 True ENSG00000156140 ENSG00000156140 HGNC:219 ADAMTSL2 gene ADAMTSL2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, MIM#231050 21415077 False 3 100;0;0 1.313 True ENSG00000197859 ENSG00000197859 HGNC:14631 ADCY6 gene ADCY6 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 8, MIM#616287;MONDO:0014570 24319099;26257172;31846058;33820833 False 3 100;0;0 1.313 True ENSG00000174233 ENSG00000174233 HGNC:237 ADD1 gene ADD1 Expert Review;Expert Review Green Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, ADD1-related 34906466 False 3 100;0;0 1.313 True ENSG00000087274 ENSG00000087274 HGNC:243 ADGRG1 gene ADGRG1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 16240336 False 3 100;0;0 1.313 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG6 gene ADGRG6 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9, OMIM #616503 30549416;26004201 False 3 67;0;33 1.313 True ENSG00000112414 ENSG00000112414 HGNC:13841 ADNP gene ADNP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Helsmoortel-van der Aa syndrome MIM#615873;MONDO:0014379 24531329;25057125;25533962;29724491;29911927 False 3 100;0;0 1.313 True ENSG00000101126 ENSG00000101126 HGNC:15766 ADSL gene ADSL Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency, MIM# 103050 1302001;22180458;18524658;27626380 False 3 100;0;0 1.313 True ENSG00000239900 ENSG00000239900 HGNC:291 AFF3 gene AFF3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 31388108;33961779 False 3 100;0;0 1.313 True ENSG00000144218 ENSG00000144218 HGNC:6473 AFF4 gene AFF4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHOPS syndrome, MIM#616368;MONDO:0014609 25730767;33248856;31630891;31058441 False 3 100;0;0 1.313 True Other ENSG00000072364 ENSG00000072364 HGNC:17869 AGK gene AGK Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, MIM#212350 False 3 100;0;0 1.313 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 False 3 100;0;0 1.313 True ENSG00000018510 ENSG00000018510 HGNC:327 AGT gene AGT Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 16116425;34234805;33163725 False 3 100;0;0 1.313 True ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 16116425 False 3 100;0;0 1.313 True ENSG00000144891 ENSG00000144891 HGNC:336 AHDC1 gene AHDC1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Xia-Gibbs syndrome, MIM# 615829;AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 24791903;27148574;30152016 False 3 100;0;0 1.313 True ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM# 608629 15322546;15467982;16453322;29146704 False 3 67;33;0 1.313 True ENSG00000135541 ENSG00000135541 HGNC:21575 AIMP1 gene AIMP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, MIM# 260600 26173967;21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 1.313 True ENSG00000164022 ENSG00000164022 HGNC:10648 AKT1 gene AKT1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 6, MIM#615109;Proteus syndrome, somatic, MIM# 176920 33030203;23246288;21793738 False 3 100;0;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 ENSG00000142208 ENSG00000142208 HGNC:391 AKT2 gene AKT2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416;Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 24285683;21979934;28502730 False 3 100;0;0 1.313 True Other ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 Expert list;Expert Review Green;Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) 28969385 False 3 50;0;50 1.313 True Other ENSG00000117020 ENSG00000117020 HGNC:393 AL117258.1 gene AL117258.1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy;congenital heart defects 34903892 False 3 100;0;0 1.313 True - ENSG00000283654 HGNC:53647 ALB gene ALB Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Analbuminemia, MIM#616000 23730173;15300429;31057599 False 3 100;0;0 1.313 True ENSG00000163631 ENSG00000163631 HGNC:399 ALDH18A1 gene ALDH18A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3, MIM# 616603;Cutis laxa, autosomal recessive, type IIIA, MIM# 219150 30071989;26320891;24913064;18478038;21739576;22411858;28228640 False 3 100;0;0 1.313 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A2 gene ALDH1A2 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 33565183;19886994;10192400 False 3 100;0;0 1.313 True ENSG00000128918 ENSG00000128918 HGNC:15472 ALDH1A3 gene ALDH1A3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8, MIM# 615113 23312594;23591992;30200890;28890889;26873617;24777706 False 3 100;0;0 1.313 True ENSG00000184254 ENSG00000184254 HGNC:409 ALG1 gene ALG1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, MIM# 608540 26931382 False 3 100;0;0 1.313 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG12 gene ALG12 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig, MIM# 607143 31481313;33461977 False 3 100;0;0 1.313 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 23404334;28733338;30221345;23404334;28733338 False 3 100;0;0 1.313 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 16006436 False 3 100;0;0 1.313 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) 10914684;27498540 False 3 100;0;0 1.313 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 26066342 False 3 100;0;0 1.313 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 25966638;28932688;26453364;31420886 False 3 100;0;0 1.313 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 3 100;0;0 1.313 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPK3 gene ALPK3 Expert list;Expert Review Amber;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27 - #618052 PMID 26846950. False 3 50;50;0 1.313 True ENSG00000136383 ENSG00000136383 HGNC:17574 ALPL gene ALPL Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, infantile MIM# 241500 19500388;23688511 False 3 100;0;0 1.313 True ENSG00000162551 ENSG00000162551 HGNC:438 ALX1 gene ALX1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3, MIM#613456 27324866;20451171;23059813 False 3 100;0;0 1.313 True ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, MIM#136760 19409524 False 3 100;0;0 1.313 True ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Frontonasal dysplasia 2, MIM# 613451;Parietal foramina 2, MIM# 609597" 19409524 False 3 100;0;0 1.313 True ENSG00000052850 ENSG00000052850 HGNC:450 AMBRA1 gene AMBRA1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neural tube defects 32333458;17589504 False 3 100;0;0 1.313 True ENSG00000110497 ENSG00000110497 HGNC:25990 AMER1 gene AMER1 Expert Review Green;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) Osteopathia striata with cranial sclerosis, MIM# 300373 28425981;20209645;19079258 False 3 100;0;0 1.313 True ENSG00000184675 ENSG00000184675 HGNC:26837 AMOTL1 gene AMOTL1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related 36751037 False 3 100;0;0 1.313 True ENSG00000166025 ENSG00000166025 HGNC:17811 AMPD2 gene AMPD2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, MIM#615809 23911318;27066553 False 3 100;0;0 1.313 True ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, MIM# 605899 8188235;11592811 False 3 100;0;0 1.313 True ENSG00000145020 ENSG00000145020 HGNC:473 ANAPC1 gene ANAPC1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 1, MIM# 618625 31303264 False 3 100;0;0 1.313 True ENSG00000153107 ENSG00000153107 HGNC:19988 ANGPT2 gene ANGPT2 Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hydrops fetalis, MONDO:0015193;Lymphatic malformation-10, MIM#619369 34876502;32908006 False 3 100;0;0 1.313 True ENSG00000091879 ENSG00000091879 HGNC:485 ANKH gene ANKH Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia, MIM#123000 11326272;20358596 False 3 100;0;0 1.313 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANKLE2 gene ANKLE2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 16, primary, autosomal recessive, MIM# 616681 25259927;30214071;31735666 False 3 100;0;0 1.313 True ENSG00000176915 ENSG00000176915 HGNC:29101 ANKRD11 gene ANKRD11 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, MIM# 148050 21782149;33461977 False 3 100;0;0 1.313 True ENSG00000167522 ENSG00000167522 HGNC:21316 ANKRD17 gene ANKRD17 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chopra-Amiel-Gordon syndrome - MIM#619504;multiple congenital malformations 33909992 False 3 100;0;0 1.313 True ENSG00000132466 ENSG00000132466 HGNC:23575 ANKS6 gene ANKS6 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, MIM# 615382;MONDO:0014158 23793029;31678577;31635528;26039630;24610927 False 3 100;0;0 1.313 True ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 1594017;8504298;8989261 False 3 100;0;0 1.313 True ENSG00000011201 ENSG00000011201 HGNC:6211 ANTXR1 gene ANTXR1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 1.313 True ENSG00000169604 ENSG00000169604 HGNC:21014 ANTXR2 gene ANTXR2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome, MIM# 228600;MONDO:0009229 30176098;20301698;14508707 False 3 100;0;0 1.313 True ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S2 gene AP1S2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, OMIM:304340 30714330 False 3 100;0;0 1.313 True ENSG00000182287 ENSG00000182287 HGNC:560 AP4B1 gene AP4B1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 21620353;22290197;24700674;24781758;32979048;32171285;32166732;31525725;31525725 False 3 100;0;0 1.313 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744;MONDO:0013401 20972249;21620353;21937992 False 3 100;0;0 1.313 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 19559397;21937992;21937992;32979048;31915823;29096665;28464862;25496299 False 3 100;0;0 1.313 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, MIM# 614067 21620353;25552650;32979048;32216065;31915823;30283821;27444738 False 3 50;50;0 1.313 True ENSG00000100478 ENSG00000100478 HGNC:575 APC2 gene APC2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 31585108 False 3 50;0;50 1.313 True ENSG00000115266 ENSG00000115266 HGNC:24036 AR gene AR Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Androgen insensitivity, MIM# 300068;Androgen insensitivity syndrome, MONDO:0019154 False 3 100;0;0 1.313 True ENSG00000169083 ENSG00000169083 HGNC:644 ARCN1 gene ARCN1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164;Microcephalic dwarfism 27476655;33154040 False 3 50;50;0 1.313 True ENSG00000095139 ENSG00000095139 HGNC:649 ARF1 gene ARF1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8 (MIM#618185) 28868155;34353862 False 3 50;0;50 1.313 True ENSG00000143761 ENSG00000143761 HGNC:652 ARFGEF2 gene ARFGEF2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly, OMIM:608097 25160555;26126837;23812912 False 3 100;0;0 1.313 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARHGAP29 gene ARHGAP29 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clefting disorder, MONDO:0000358, ARHGAP29-related 27350171;23008150 False 3 100;0;0 1.313 True ENSG00000137962 ENSG00000137962 HGNC:30207 ARHGAP31 gene ARHGAP31 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1, MIM#100300 False 3 100;0;0 1.313 True ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 2 (MIM#614607) 23929686;22426308;25168959 False 3 100;0;0 1.313 True ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, MIM 135900 25674384;30349098;26506440 False 3 100;0;0 1.313 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 6, MIM# 617808 26238514;30838730;29698805;28884947;28124119 False 3 100;0;0 1.313 True ENSG00000189079 ENSG00000189079 HGNC:18037 ARL13B gene ARL13B Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, 612291 25138100;18674751;29255182 False 3 100;0;0 1.313 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35- MIM#618161 30269812;16565502 False 3 100;0;0 1.313 True ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 15258860;32361989;31888296;25402481 False 3 100;0;0 1.313 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC4 gene ARMC4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, MIM# 615451 31765523;23849778 False 3 100;0;0 1.313 True ENSG00000169126 ENSG00000169126 HGNC:25583 ARMC9 gene ARMC9 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM# 617622 28625504 False 3 100;0;0 1.313 True ENSG00000135931 ENSG00000135931 HGNC:20730 ARSB gene ARSB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200;MONDO:0009661 11668612;1301949 False 3 100;0;0 1.313 True ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive, MIM# 302950 False 3 100;0;0 1.313 True ENSG00000157399 ENSG00000157399 HGNC:719 ARX gene ARX Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydranencephaly with abnormal genitalia, MIM# 300215;Lissencephaly, X-linked 2, MIM# 300215 14722918;12379852;14722918 False 3 100;0;0 1.313 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, MIM# 228000 11241842 False 3 100;0;0 1.313 True ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2 MIM#616867 28749478;26924529;30327447 False 3 100;0;0 1.313 True ENSG00000138303 ENSG00000138303 HGNC:24268 ASNS gene ASNS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, MIM#615574 24139043 False 3 100;0;0 1.313 True ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Canavan disease, MIM# 271900 False 3 100;0;0 1.313 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, MIM#608716 29243349;19028728 False 3 100;0;0 1.313 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASXL1 gene ASXL1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome , MIM#605039 29446906;21706002 False 3 100;0;0 1.313 True ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shashi-Pena syndrome, MIM# 617190 27693232;33751773 False 3 100;0;0 1.313 True ENSG00000143970 ENSG00000143970 HGNC:23805 ATAD1 gene ATAD1 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4 - #618011 28180185;29390050;29659736 False 3 100;0;0 1.313 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATAD3A gene ATAD3A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 33845882;28549128;28158749;29053797;32607449;32004445;33575671;31727539;28327206;27640307 False 3 100;0;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 ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal AICA-ribosiduria due to ATIC deficiency, MIM# 608688 15114530;32557644 False 3 100;0;0 1.313 True ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494 34212383;30827498 False 3 100;0;0 1.313 True ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A2 gene ATP1A2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;Developmental and epileptic encephalopathy 98, MIM# 619605 30690204;31608932;33880529 False 3 100;0;0 1.313 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 99, MIM# 619606;Polymicrogyria 33762331;33880529 False 3 100;0;0 1.313 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP5O gene ATP5O Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 35621276;34954817 False 3 100;0;0 1.313 True ENSG00000241837 ENSG00000241837 HGNC:850 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250 29952037;22773132 False 3 100;0;0 1.313 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1B2 gene ATP6V1B2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 2, MIM# 616455;Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 25915598;24913193;28396750 False 3 100;0;0 1.313 True ENSG00000147416 ENSG00000147416 HGNC:854 ATP7A gene ATP7A Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM# 309400 23035047 False 3 100;0;0 1.313 True ENSG00000165240 ENSG00000165240 HGNC:869 ATR gene ATR Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, MONDO:0008869;Seckel syndrome 1, OMIM:210600 12640452;19620979;30199583;23111928 False 3 100;0;0 1.313 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980 20301622 False 3 100;0;0 1.313 True ENSG00000085224 ENSG00000085224 HGNC:886 AUTS2 gene AUTS2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 23332918;25205402;31474318 False 3 100;0;0 1.313 True ENSG00000158321 ENSG00000158321 HGNC:14262 B3GALNT2 gene B3GALNT2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 1.313 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, MIM# 609465;Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 23664117;29931299;29443383 False 3 100;0;0 1.313 True ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 21763480;25893793;26086840;31988067;31438591 False 3 100;0;0 1.313 True ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM#261540 29096039;18199743;16909395 False 3 100;0;0 1.313 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT7 gene B4GALT7 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 23956117;24755949;31278392;31614862;31862401 False 3 100;0;0 1.313 True ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 23359570;23877401;23359570;23217742 False 3 50;50;0 1.313 True ENSG00000174684 ENSG00000174684 HGNC:15685 B9D1 gene B9D1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Meckel syndrome 9, OMIM:614209;Joubert syndrome 27, MONDO:0014927 32622957;24886560;21493627;25920555;34338422;21763481 False 3 50;0;50 1.313 True ENSG00000108641 ENSG00000108641 HGNC:24123 B9D2 gene B9D2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481;31411728;26092869 False 3 100;0;0 1.313 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 MONDO:0008854;Bardet-Biedl syndrome 1 OMIM:209900 20177705 False 3 100;0;0 1.313 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 16582908;19252258 False 3 100;0;0 1.313 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 19797195;29633607;26082521 False 3 100;0;0 1.313 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 11567139;16823392;28143435 False 3 100;0;0 1.313 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 28425981;12016587;11381270 False 3 100;0;0 1.313 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 19252258;15137946;10053027;15637713 False 3 100;0;0 1.313 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 12567324;21937992;19797195 False 3 100;0;0 1.313 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 16380913;22353939;32686083;32037757 False 3 100;0;0 1.313 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCAP31 gene BCAP31 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 24011989;31330203;33603160 False 3 100;0;0 1.313 True ENSG00000185825 ENSG00000185825 HGNC:16695 BCAS3 gene BCAS3 Expert Review;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 34022130 False 3 100;0;0 1.313 True ENSG00000141376 ENSG00000141376 HGNC:14347 BCL11A gene BCL11A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dias-Logan syndrome, MIM# 617101 27453576;32903878 False 3 100;0;0 1.313 True ENSG00000119866 ENSG00000119866 HGNC:13221 BCOR gene BCOR Expert Review Green;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) Microphthalmia, syndromic 2, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia 29974297 False 3 100;0;0 1.313 True ENSG00000183337 ENSG00000183337 HGNC:20893 BCS1L gene BCS1L Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, MIM# 262000;Leigh syndrome, MIM# 256000;BCS1L-related mitochondrial disease 30712880;26563427;24172246;17314340 False 3 100;0;0 1.313 True ENSG00000074582 ENSG00000074582 HGNC:1020 BFSP2 gene BFSP2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 12, multiple types, MIM# 611597 10729115;10739768;15570218;24654948;21836522 False 3 100;0;0 1.313 True ENSG00000170819 ENSG00000170819 HGNC:1041 BHLHA9 gene BHLHA9 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 25466284;34272776;31912643;31152918;30107244 False 3 100;0;0 1.313 True ENSG00000205899 ENSG00000205899 HGNC:35126 BICD2 gene BICD2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 27751653;30054298;29274205;28635954;33547725 False 3 100;0;0 1.313 True Other ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, MIM# 255200 17676042 False 3 100;0;0 1.313 True ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 1.313 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMP1 gene BMP1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII , MIM#614856 28513615;25402547;22052668;22482805;25214535 False 3 100;0;0 1.313 True ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877 29198724 False 3 100;0;0 1.313 True ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial cleft 11 600625;Microphthalmia, syndromic 6, MIM# 607932 21340693;31053785;19249007;31909686 False 3 100;0;0 1.313 True ENSG00000125378 ENSG00000125378 HGNC:1071 BMPER gene BMPER Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, MIM#608022 20869035;30006055 False 3 100;0;0 1.313 True ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, MIM# 609441 15805157;24129431;26105076 False 3 100;0;0 1.313 True ENSG00000138696 ENSG00000138696 HGNC:1077 BNC2 gene BNC2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lower urinary tract obstruction, congenital, MIM #618612 31656805;31051115 False 3 100;0;0 1.313 True ENSG00000173068 ENSG00000173068 HGNC:30988 BRAF gene BRAF Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 7, MIM# 613706;Cardiofaciocutaneous syndrome, MIM# 115150 19206169;18042262 False 3 100;0;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 ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056;Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498 23035047;26483087;26494257;27282546;22279524;23035047;25319849;25500575 False 3 100;0;0 1.313 True ENSG00000106009 ENSG00000106009 HGNC:21701 BRCA1 gene BRCA1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group S, MIM# 617883 False 3 100;0;0 1.313 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 False 3 100;0;0 1.313 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome, MONDO:0016033 PMID: 29379197;30302754;11997514;34035299 False 3 100;0;0 1.313 True ENSG00000141867 ENSG00000141867 HGNC:13575 BRF1 gene BRF1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome - MIM#616202 25561519;25561519;27748960 False 3 100;0;0 1.313 True ENSG00000185024 ENSG00000185024 HGNC:11551 BRIP1 gene BRIP1 Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, MIM# 609054 False 3 100;0;0 1.313 True ENSG00000136492 ENSG00000136492 HGNC:20473 BRPF1 gene BRPF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333;MONDO:0015022 27939640;27939639;32652122 False 3 100;0;0 1.313 True ENSG00000156983 ENSG00000156983 HGNC:14255 BSND gene BSND Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, MIM#602522 False 3 100;0;0 1.313 True ENSG00000162399 ENSG00000162399 HGNC:16512 BUB1B gene BUB1B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, MIM# 257300 18548531 False 3 100;0;0 1.313 True ENSG00000156970 ENSG00000156970 HGNC:1149 C11orf70 gene C11orf70 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, MIM# 618063 29727692;29727693 False 3 100;0;0 1.313 True ENSG00000137691 ENSG00000137691 HGNC:28188 C12orf57 gene C12orf57 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, MIM#218340 False 3 100;0;0 1.313 True ENSG00000111678 ENSG00000111678 HGNC:29521 C16orf62 gene C16orf62 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 25434475;31712251 False 3 50;50;0 1.313 True ENSG00000103544 ENSG00000103544 HGNC:24641 C1orf127 gene C1orf127 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, MONDO:0018677, CIROZ-related 39753129 False 3 100;0;0 1.313 True ENSG00000175262 ENSG00000175262 HGNC:26730 C1QBP gene C1QBP Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM# 617713;severe neonatal cardiomyopathy 28942965 False 3 100;0;0 1.313 True ENSG00000108561 ENSG00000108561 HGNC:1243 C21orf2 gene C21orf2 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial, MIM# 602271 26974433;27548899;28422394 False 3 100;0;0 1.313 True ENSG00000160226 ENSG00000160226 HGNC:1260 C21orf59 gene C21orf59 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 26, MONDO:0014211;Ciliary dyskinesia, primary, 26, OMIM:615500 24094744 False 3 100;0;0 1.313 True ENSG00000159079 ENSG00000159079 HGNC:1301 C2CD3 gene C2CD3 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948;MONDO:0014413 24997988;26477546;27094867;30097616;33875766 False 3 67;0;33 1.313 True ENSG00000168014 ENSG00000168014 HGNC:24564 C2orf69 gene C2orf69 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 False 3 100;0;0 1.313 True ENSG00000178074 ENSG00000178074 HGNC:26799 C5orf42 gene C5orf42 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170 22425360;24178751 False 3 100;0;0 1.313 True ENSG00000197603 ENSG00000197603 HGNC:25801 CA2 gene CA2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 False 3 100;0;0 1.313 True ENSG00000104267 ENSG00000104267 HGNC:1373 CACHD1 gene CACHD1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal syndromic complex neurodevelopmental disorder MONDO:0800439 PMID: 38158856 False 3 100;0;0 1.313 True ENSG00000158966 ENSG00000158966 HGNC:29314 CACNA1C gene CACNA1C Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Timothy syndrome, MIM# 601005;Long QT syndrome 8, MIM# 618447 15454078 False 3 100;0;0 1.313 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 31921405;28472301;25620733 False 3 100;0;0 1.313 True Other ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 69, MIM#618285 30849329;30343943 False 3 100;0;0 1.313 True Other - please provide details in the comments ENSG00000198216 ENSG00000198216 HGNC:1392 CANT1 gene CANT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450 False 3 100;0;0 1.313 True ENSG00000171302 ENSG00000171302 HGNC:19721 CAPN15 gene CAPN15 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318;microphthalmia HP:0000568;coloboma HP:0000589 32885237 False 3 100;0;0 1.313 True ENSG00000103326 ENSG00000103326 HGNC:11182 CASK gene CASK Expert Review Green;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) FG syndrome 4, MIM# 300422;Mental retardation, with or without nystagmus, MIM# 300422;Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 24278995 False 3 100;0;0 1.313 True ENSG00000147044 ENSG00000147044 HGNC:1497 CASP2 gene CASP2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 37880421 False 3 100;0;0 1.313 True ENSG00000106144 ENSG00000106144 HGNC:1503 CBL gene CBL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 25358541;20619386;20543203;20694012 False 3 100;0;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 ENSG00000110395 ENSG00000110395 HGNC:1541 CC2D2A gene CC2D2A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9, MIM# 612285;Meckel syndrome 6, MIM# 612284;COACH syndrome 2, MIM# 619111 18387594;18950740;18513680;18950740;19574260;21725307;33486889 False 3 100;0;0 1.313 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 1.313 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, MIM# 614679 22581229;32447765;31858719;28790179 False 3 100;0;0 1.313 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, MIM# 615067 23261303;23261302;32855706;23506398 False 3 100;0;0 1.313 True ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 30, MONDO:0014465;Ciliary dyskinesia, primary, 30, OMIM:616037 25192045;25224326;32490514;32286033;30504913 False 3 100;0;0 1.313 True ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC22 gene CCDC22 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2, MIM# 300963 21826058;24916641;34020006;33059814;31971710 False 3 100;0;0 1.313 True ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC39 gene CCDC39 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, MIM# 613807 21131972;23255504 False 3 100;0;0 1.313 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, MIM#613808 21131974;23255504;31879361;31765523;31650533 False 3 100;0;0 1.313 True ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC8 gene CCDC8 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3M syndrome 3, MONDO:0013627;3-M syndrome 3, OMIM:614205 21737058 False 3 100;0;0 1.313 True ENSG00000169515 ENSG00000169515 HGNC:25367 CCDC88C gene CCDC88C Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360;Hydrocephalus, congenital, 1, OMIM:236600 23042809;21031079 False 3 100;0;0 1.313 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 24705253 False 3 100;0;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 ENSG00000118971 ENSG00000118971 HGNC:1583 CDAN1 gene CDAN1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM#224120 30786798;29668551;29599085;32518175 False 3 100;0;0 1.313 True ENSG00000140326 ENSG00000140326 HGNC:1713 CDC45 gene CDC45 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7, MIM 617063 31474763;27374770 False 3 100;0;0 1.313 True ENSG00000093009 ENSG00000093009 HGNC:1739 CDH1 gene CDH1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharocheilodontic syndrome 1, MIM# 119580 28301459 False 3 100;0;0 1.313 True ENSG00000039068 ENSG00000039068 HGNC:1748 CDH3 gene CDH3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280 15805154;22140374 False 3 100;0;0 1.313 True ENSG00000062038 ENSG00000062038 HGNC:1762 CDK10 gene CDK10 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Al Kaissi syndrome MIM#617694 28886341;34974531 False 3 100;0;0 1.313 True ENSG00000185324 ENSG00000185324 HGNC:1770 CDK13 gene CDK13 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 29021403;29393965;30904094 False 3 67;33;0 1.313 True ENSG00000065883 ENSG00000065883 HGNC:1733 CDK5RAP2 gene CDK5RAP2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MONDO:0011488;Microcephaly 3, primary, autosomal recessive, OMIM:604804 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 3 100;0;0 1.313 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;dysmorphism;congenital abnormalities;seizures 30905399 False 3 100;0;0 1.313 True ENSG00000132964 ENSG00000132964 HGNC:1779 CDKL5 gene CDKL5 Expert Review Green;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) Developmental and epileptic encephalopathy 2, MIM# 300672 19793311 False 3 50;50;0 1.313 True ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN1C gene CDKN1C Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, MIM# 130650;IMAGe syndrome, MIM# 614732;Silver-Russell syndrome 10424811;8841187;22205991;20503313;19843502;15372379;23511928;30794780;33076988;31976094;31497289 False 3 100;0;0 1.313 True ENSG00000129757 ENSG00000129757 HGNC:1786 CDON gene CDON Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 11, MIM# 614226;MONDO:0013642 21802063;26529631;26728615;23071453 False 3 50;50;0 1.313 True ENSG00000064309 ENSG00000064309 HGNC:17104 CDT1 gene CDT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM#613804 False 3 100;0;0 1.313 True ENSG00000167513 ENSG00000167513 HGNC:24576 CDX2 gene CDX2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005;Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs 29177441 False 3 50;50;0 1.313 True ENSG00000165556 ENSG00000165556 HGNC:1806 CELSR1 gene CELSR1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 9, MIM# 619319 31215153;31403174;26855770;38272662 False 3 50;0;50 1.313 True ENSG00000075275 ENSG00000075275 HGNC:1850 CELSR3 gene CELSR3 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), CELSR3-related 38429302 False 3 100;0;0 1.313 True ENSG00000008300 ENSG00000008300 HGNC:3230 CENPF gene CENPF Expert Review;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 25564561;28407396;26820108 False 3 67;33;0 1.313 True ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary, autosomal recessive, MIM# 608393;Seckel syndrome 4, MIM# 613676 20522431;23166506;15793586;20978018;22775483;32677750;32549991 False 3 100;0;0 1.313 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP104 gene CEP104 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770 26477546 False 3 100;0;0 1.313 True ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert Review Green;Genomics England PanelApp;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 31, MIM# 617761;Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 27208211;33486889;29847808;25361962;27208211 False 3 67;33;0 1.313 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP135 gene CEP135 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 8, primary, autosomal recessive, OMIM:614673;Microcephaly 8, primary, autosomal recessive, MONDO:0013849;Microcephalic primordial dwarfism 30214071;22521416;26657937 False 3 100;0;0 1.313 True ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;MONDO:0013923;Seckel syndrome 5, MIM# 613823;MONDO:0013443 20598275;22775483;21131973;23199753 False 3 100;0;0 1.313 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP164 gene CEP164 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.313 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5, MIM# 610188;Meckel syndrome 4, MIM# 611134 16682973;16682970;17705300;33370260;32600475;18327255;20690115 False 3 100;0;0 1.313 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 22246503 False 3 100;0;0 1.313 True ENSG00000106477 ENSG00000106477 HGNC:12370 CEP55 gene CEP55 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500;lethal CEP55-related syndromes 28295209;28264986;30622327;32100459 False 3 100;0;0 1.313 True ENSG00000138180 ENSG00000138180 HGNC:1161 CEP57 gene CEP57 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 2, #MIM 614114 24259107;21552266;32861809;30147898 False 3 100;0;0 1.313 True ENSG00000166037 ENSG00000166037 HGNC:30794 CEP83 gene CEP83 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Hydrocephalus;ID 24882706 False 3 100;0;0 1.313 True ENSG00000173588 ENSG00000173588 HGNC:17966 CEP85L gene CEP85L Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 10, posterior predominant (MIM618873) 32097630 False 3 50;0;50 1.313 True ENSG00000111860 ENSG00000111860 HGNC:21638 CFAP45 gene CFAP45 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 PMID: 33139725 False 3 100;0;0 1.313 True ENSG00000213085 ENSG00000213085 HGNC:17229 CFAP52 gene CFAP52 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 PMID: 25469542;33139725 False 3 100;0;0 1.313 True ENSG00000166596 ENSG00000166596 HGNC:16053 CFAP53 gene CFAP53 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive 614779 22577226;26531781;25504577;28621423 False 3 100;0;0 1.313 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 2, autosomal 605376 11062482;11799476;31633655;18162845;25423076 False 3 100;0;0 1.313 True ENSG00000136698 ENSG00000136698 HGNC:18292 CFTR gene CFTR Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 False 3 100;0;0 1.313 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHAMP1 gene CHAMP1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 40 (MIM#616579);microcephaly 27148580;26340335 False 3 50;50;0 1.313 True ENSG00000198824 ENSG00000198824 HGNC:20311 CHAT gene CHAT Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic 254210 11172068;12756141;31192527;29518833;29189923 False 3 100;0;0 1.313 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHD4 gene CHD4 Expert Review Amber;Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome MONDO:0014946;Sifrim-Hitz-Weiss syndrome OMIM:617159 31388190 False 3 50;50;0 1.313 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 17576576;24185968 False 3 100;0;0 1.313 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHKB gene CHKB Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM# 602541 21665002;23692895;24997086 False 3 100;0;0 1.313 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP1A gene CHMP1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 8, MONDO:0013990;Pontocerebellar hypoplasia, type 8, OMIM:614961 23023333 False 3 100;0;0 1.313 True ENSG00000131165 ENSG00000131165 HGNC:8740 CHRNA1 gene CHRNA1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009668 18252226;30177536 False 3 100;0;0 1.313 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNA3 gene CHRNA3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 31708116 False 3 100;0;0 1.313 True ENSG00000080644 ENSG00000080644 HGNC:1957 CHRNB1 gene CHRNB1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 8872460;8651643;27375219;32504635;10562302 False 3 100;0;0 1.313 True ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009668 29399782;18252226 False 3 100;0;0 1.313 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 False 3 100;0;0 1.313 True ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, MIM# 265000;Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009926;MONDO:0009668 16826520;16826531;22167768 False 3 100;0;0 1.313 True ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 25703627;26373698 False 3 100;0;0 1.313 True ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 18513679 False 3 100;0;0 1.313 True ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 21129728;21129727;24269551 False 3 100;0;0 1.313 True ENSG00000131873 ENSG00000131873 HGNC:17198 CIT gene CIT Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 17, primary, autosomal recessive, OMIM:617090;Microcephaly 17, primary, autosomal recessive, MONDO:0014908 27453578;27503289;27453579 False 3 100;0;0 1.313 True ENSG00000122966 ENSG00000122966 HGNC:1985 CITED2 gene CITED2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 8 - MIM#614433;Ventricular septal defect 2 - MIM#614431;Congenital heart disease 11694877;16287139;33706167;33439552;31515672;29536580 False 3 100;0;0 1.313 True ENSG00000164442 ENSG00000164442 HGNC:1987 CKAP2L gene CKAP2L Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, MIM# 272440 25439729;33913579;29473684 False 3 100;0;0 1.313 True ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN7 gene CLCN7 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541;Osteopetrosis, autosomal recessive 4, MIM# 611490 31155284 False 3 100;0;0 1.313 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLCNKB gene CLCNKB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, MIM#607364;Bartter syndrome, type 4b, digenic, MIM#613090 18310267;29254190 False 3 100;0;0 1.313 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLMP gene CLMP Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome , MIM#615237 22155368 False 3 100;0;0 1.313 True ENSG00000166250 ENSG00000166250 HGNC:24039 CLP1 gene CLP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10, OMIM:615803;Pontocerebellar hypoplasia type 10, MONDO:0014349 24766809;29307788 False 3 100;0;0 1.313 True ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 25597510;34140661 False 3 100;0;0 1.313 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLTC gene CLTC Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 56, MIM# 617854 33743358;29100083;26822784;34230591;31776469 False 3 50;50;0 1.313 True ENSG00000141367 ENSG00000141367 HGNC:2092 CNOT2 gene CNOT2 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 31512373;31145527;28135719 False 3 100;0;0 1.313 True ENSG00000111596 ENSG00000111596 HGNC:7878 CNOT3 gene CNOT3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672 31201375 False 3 100;0;0 1.313 True ENSG00000088038 ENSG00000088038 HGNC:7879 CNTNAP1 gene CNTNAP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, MIM#618186;Lethal congenital contracture syndrome 7, MIM# 616286 28374019;29511323;27668699 False 3 100;0;0 1.313 True ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 16571880;19896112;27439707 False 3 100;0;0 1.313 True ENSG00000174469 ENSG00000174469 HGNC:13830 COASY gene COASY Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia;microcephaly;arthrogryposis 30089828;35499143 False 3 75;25;0 1.313 True ENSG00000068120 ENSG00000068120 HGNC:29932 COG1 gene COG1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg, MIM# 611209 16537452;19008299;17904886;11980916 False 3 100;0;0 1.313 True ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj 613489;Saul-Wilson syndrome, MIM #618150 31949312;30290151;21185756;19494034 False 3 100;0;0 1.313 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal COG5-CDG, MONDO:0013325;Congenital disorder of glycosylation, type III, OMIM:613612 23228021;31572517;32174980 False 3 100;0;0 1.313 True ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, 614576;Shaheen syndrome, 615328 False 3 100;0;0 1.313 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 15107842;17356545;28883096 False 3 100;0;0 1.313 True ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, MIM# 611182 17220172;28619360;30690882;17331980 False 3 50;0;50 1.313 True ENSG00000213380 ENSG00000213380 HGNC:18623 COL10A1 gene COL10A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal chondrodysplasia, Schmid type, MIM#156500 15880705;31633898 False 3 100;0;0 1.313 True ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 1, MIM# 228520;Marshall syndrome, MIM# 154780 False 3 100;0;0 1.313 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 2, MIM# 614524;Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 False 3 100;0;0 1.313 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL12A1 gene COL12A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2, 616470;Bethlem myopathy 2, 616471 24334604;24334769;21670218 False 3 100;0;0 1.313 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL13A1 gene COL13A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720;Congenital myasthenic syndrome 19, MONDO:0014745 31081514;28369367;20844119 False 3 100;0;0 1.313 True ENSG00000197467 ENSG00000197467 HGNC:2190 COL18A1 gene COL18A1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1 MIM# 267750 25456301;19160445;17546652 False 3 100;0;0 1.313 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Caffey disease, MIM#114000;Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060;Osteogenesis imperfecta, type I, MIM#166200;Osteogenesis imperfecta, type II, MIM#166210;Osteogenesis imperfecta, type III, MIM#259420;Osteogenesis imperfecta, type IV, MIM#166220 12362985;28956891 False 3 100;0;0 1.313 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120;Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821;Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320;Osteogenesis imperfecta, type II, MIM# 166210;Osteogenesis imperfecta, type III, MIM# 259420;Osteogenesis imperfecta, type IV, MIM# 166220 False 3 100;0;0 1.313 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL25A1 gene COL25A1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita MONDO:0015168 35077597;26437029 False 3 100;0;0 1.313 True ENSG00000188517 ENSG00000188517 HGNC:18603 COL27A1 gene COL27A1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Steel syndrome, OMIM #615155 PubMed: 24986830, 28276056, 28322503 False 3 100;0;0 1.313 True ENSG00000196739 ENSG00000196739 HGNC:22986 COL2A1 gene COL2A1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Collagenopathy type 2 alpha 1, MONDO:0022800 False 3 100;0;0 1.313 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL3A1 gene COL3A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343;Ehlers-Danlos syndrome, vascular type, MIM# 130050 28742248;24922459;28258187;27168972;25205403;19455184 False 3 100;0;0 1.313 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease with or without ocular anomalies, MIM#175780;Porenecphaly 30266093;32732225;30712878;24628545;31719132;23065703 False 3 100;0;0 1.313 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM# 614483;Porencephaly 32732225;30315939;22209246 False 3 50;50;0 1.313 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL6A1 gene COL6A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, MIM# 158810;Ullrich congenital muscular dystrophy 1, MIM# 254090 False 3 100;0;0 1.313 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, MIM# 158810;Ullrich congenital muscular dystrophy 1, MIM# 254090 False 3 100;0;0 1.313 True ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, MIM# 158810;Ullrich congenital muscular dystrophy 1, MIM# 254090 False 3 100;0;0 1.313 True ENSG00000163359 ENSG00000163359 HGNC:2213 COL9A1 gene COL9A1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM# 614134 16909383;21421862;31090205 False 3 100;0;0 1.313 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 21671392;31090205;33356723 False 3 100;0;0 1.313 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969;Stickler syndrome 33570243;31090205;30450842;25381065;24273071;15551337 False 3 100;0;0 1.313 True ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC10 gene COLEC10 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3, MONDO:0009554;3MC syndrome 3, OMIM:248340 28301481;34740859 False 3 100;0;0 1.313 True ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2, MIM# 265050 21258343;26789649;28301481 False 3 100;0;0 1.313 True ENSG00000118004 ENSG00000118004 HGNC:17213 COLGALT1 gene COLGALT1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, MIM# 618360 30412317;33709034;31759980 False 3 100;0;0 1.313 True ENSG00000130309 ENSG00000130309 HGNC:26182 COQ4 gene COQ4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276 25658047;26185144;33704555 False 3 100;0;0 1.313 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ7 gene COQ7 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8 - MIM#616733 33215859;28125198;31240163;28409910;26084283 False 3 100;0;0 1.313 True ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, MIM#614654 30712880;19375058;26081641;23255162;31821167 False 3 100;0;0 1.313 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX7B gene COX7B Expert Review Green;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) Linear skin defects with multiple congenital anomalies 2, MIM#300887 23122588 False 3 100;0;0 1.313 True ENSG00000131174 ENSG00000131174 HGNC:2291 CPAMD8 gene CPAMD8 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 8, MIM# 617319 32274568 False 3 100;0;0 1.313 True ENSG00000160111 ENSG00000160111 HGNC:23228 CPT2 gene CPT2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, lethal neonatal, MIM# 608836 11477613;12410208 False 3 100;0;0 1.313 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRADD gene CRADD Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 27773430 False 3 100;0;0 1.313 True ENSG00000169372 ENSG00000169372 HGNC:2340 CRB2 gene CRB2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 25557780;33687977;32051522;30212996;33575434;31438467;30593785;27004616 False 3 100;0;0 1.313 True ENSG00000148204 ENSG00000148204 HGNC:18688 CREB3L1 gene CREB3L1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI, 616229 24079343;28817112;29936144;30657919 False 3 100;0;0 1.313 True ENSG00000157613 ENSG00000157613 HGNC:18856 CREBBP gene CREBBP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, MIM# 180849;Menke-Hennekam syndrome 1, MIM# 618332 10699051;17855048;27311832;29460469 False 3 100;0;0 1.313 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies (MIM#615789);Rothmund-Thomson syndrome MONDO:0010002 24389050;27250922;37013901;36630262 False 3 33;67;0 1.313 True ENSG00000119878 ENSG00000119878 HGNC:14312 CRLF1 gene CRLF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, MIM#272430 12509788;17436251;17436252 False 3 100;0;0 1.313 True ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, MIM# 610682 21955071;19846465;17192541 False 3 100;0;0 1.313 True ENSG00000170275 ENSG00000170275 HGNC:2379 CRYAA gene CRYAA Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 9, multiple types, MIM# 604219 9467006;11006246;16735993;17724170;23255486 False 3 100;0;0 1.313 True ENSG00000160202 ENSG00000160202 HGNC:2388 CRYBA1 gene CRYBA1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 10, multiple types, MIM# 600881 9788845;14598164;34419537;33827296;31488069 False 3 100;0;0 1.313 True ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 23, MIM# 610425 16960806;16960806;20577656 False 3 100;0;0 1.313 True ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 17, multiple types, MIM# 611544 12360425;16110300;17460281;21972112 False 3 100;0;0 1.313 True ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 3, multiple types, MIM# 601547 9158139;10634616;11424921;17234267 False 3 100;0;0 1.313 True ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, MIM# 609741 15914629;23508780;34356085;33594837;33510601 False 3 100;0;0 1.313 True ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 2, multiple types, MIM# 604307 10521291;10914683;12011157;19204787;22052681 False 3 100;0;0 1.313 True ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 4, multiple types, MIM# 115700 9927684;10915766;12676897;17724170 False 3 100;0;0 1.313 True ENSG00000118231 ENSG00000118231 HGNC:2411 CSF1R gene CSF1R Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476;BANDDOS 30982609;33749994;34135456 False 3 100;0;0 1.313 True ENSG00000182578 ENSG00000182578 HGNC:2433 CSMD1 gene CSMD1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 PMID: 38816421 False 3 100;0;0 1.313 True ENSG00000183117 ENSG00000183117 HGNC:14026 CSNK2A1 gene CSNK2A1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Okur-Chung neurodevelopmental syndrome, MIM# 617062 27048600;29240241;29383814 False 3 100;0;0 1.313 True ENSG00000101266 ENSG00000101266 HGNC:2457 CSPP1 gene CSPP1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 24360808;24360803;24360807;25997910 False 3 100;0;0 1.313 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 22267198 False 3 100;0;0 1.313 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTCF gene CTCF Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 21 (MIM#615502) 23746550;31239556 False 3 100;0;0 1.313 True ENSG00000102974 ENSG00000102974 HGNC:13723 CTDP1 gene CTDP1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 20301787;14517542;24690360;29174527;25529582 False 3 100;0;0 1.313 True ENSG00000060069 ENSG00000060069 HGNC:2498 CTNNA2 gene CTNNA2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 30013181 False 3 100;0;0 1.313 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 23033978;24614104;25326669;27915094 False 3 100;0;0 1.313 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTNND1 gene CTNND1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharocheilodontic syndrome 2, MIM# 617681 28301459;32196547 False 3 100;0;0 1.313 True ENSG00000198561 ENSG00000198561 HGNC:2515 CTSA gene CTSA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, MIM# 256540 7759227 False 3 100;0;0 1.313 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 1558577 False 3 100;0;0 1.313 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis, MIM# 265800 False 3 100;0;0 1.313 True ENSG00000143387 ENSG00000143387 HGNC:2536 CTU2 gene CTU2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 27480277;26633546 False 3 100;0;0 1.313 True ENSG00000174177 ENSG00000174177 HGNC:28005 CUL3 gene CUL3 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autism or seizures (MIM#619239);Pseudohypoaldosteronism, type IIE (MIM#614496) 37665043 False 3 100;0;0 1.313 True ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 17236139;19377476 False 3 100;0;0 1.313 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUL7 gene CUL7 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, MIM# 273750;Yakut short stature syndrome 16142236;19225462;17675530 False 3 100;0;0 1.313 True ENSG00000044090 ENSG00000044090 HGNC:21024 CWC27 gene CWC27 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 28285769;31481716 False 3 100;0;0 1.313 True ENSG00000153015 ENSG00000153015 HGNC:10664 CWF19L1 gene CWF19L1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127 27016154 False 3 100;0;0 1.313 True ENSG00000095485 ENSG00000095485 HGNC:25613 CYP11A1 gene CYP11A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 28425981;12161514;16705068;18182448 False 3 100;0;0 1.313 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 8768848 False 3 100;0;0 1.313 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP17A1 gene CYP17A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 2843762;14671162;2026124 False 3 100;0;0 1.313 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP1B1 gene CYP1B1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300 32499604;32224865 False 3 100;0;0 1.313 True ENSG00000138061 ENSG00000138061 HGNC:2597 CYP21A2 gene CYP21A2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910 False 3 100;0;0 1.313 True ENSG00000231852 ENSG00000231852 HGNC:2600 CYP26B1 gene CYP26B1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 27410456;22019272 False 3 100;0;0 1.313 True ENSG00000003137 ENSG00000003137 HGNC:20581 D2HGDH gene D2HGDH Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, MIM# 600721 False 3 100;0;0 1.313 True ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 25527264;23643384 False 3 100;0;0 1.313 True ENSG00000115866 ENSG00000115866 HGNC:2678 DCC gene DCC Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600;Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542 20431009;31697046;21242494;28250454;28250456 False 3 100;0;0 1.313 True ENSG00000187323 ENSG00000187323 HGNC:2701 DCHS1 gene DCHS1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Van Maldergem syndrome 1, MIM# 601390 27262615;22473091;24056717;29046692 False 3 100;0;0 1.313 True ENSG00000166341 ENSG00000166341 HGNC:13681 DCX gene DCX Expert Review Green;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) Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067 20301364;10915612;9489699;12552055 False 3 100;0;0 1.313 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDR2 gene DDR2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR 19110212;20223752 False 3 100;0;0 1.313 True ENSG00000162733 ENSG00000162733 HGNC:2731 DDX11 gene DDX11 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM# 613398;MONDO:0013252 20137776;23033317;30216658 False 3 100;0;0 1.313 True ENSG00000013573 ENSG00000013573 HGNC:2736 DDX3X gene DDX3X Expert Review Green;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, syndrome, Snijders Blok type MIM# 300958 30266093;26235985;25533962;33528536;30936465;31274575;30817323 False 3 100;0;0 1.313 True ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 Expert Review;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, MONDO:0008267;Orofaciodigital syndrome V, OMIM:174300 29127725;23972372;28711741 False 3 100;0;0 1.313 True ENSG00000118197 ENSG00000118197 HGNC:25360 DDX6 gene DDX6 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653 31422817 False 3 100;0;0 1.313 True ENSG00000110367 ENSG00000110367 HGNC:2747 DEAF1 gene DEAF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171;Vulto-van Silfout-de Vries syndrome 615828 30923367;24726472;26048982;28940898;26834045 False 3 100;0;0 1.313 True ENSG00000177030 ENSG00000177030 HGNC:14677 DENND5A gene DENND5A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy, 49, MONDO:0015002;Developmental and epileptic encephalopathy 49, OMIM:617281 27431290;27866705;32705489 False 3 100;0;0 1.313 True ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 1 MIM#604364 23542697;23542701;24814846;24585383;26505888;27173016;31444548 False 3 50;0;50 1.313 True ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM# 602398 21671375;12457401;29175559;21559050 False 3 100;0;0 1.313 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM# 270400 31840946;23059950 False 3 75;25;0 1.313 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Miller syndrome, MIM# 263750 19915526;20220176;33262786;27370710 False 3 100;0;0 1.313 True ENSG00000102967 ENSG00000102967 HGNC:2867 DHRSX gene DHRSX Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, MIM# 301133 38821050 False 3 100;0;0 1.313 True ENSG00000169084 ENSG00000169084 HGNC:18399 DIAPH1 gene DIAPH1 Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM#616632 24781755;26463574 False 3 100;0;0 1.313 True ENSG00000131504 ENSG00000131504 HGNC:2876 DICER1 gene DICER1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "GLOW syndrome, somatic mosaic - MIM#618272;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800;Pleuropulmonary blastoma - MIM#601200" 27960159;29343557;26227654;33208384;35114704;31232238;24676357 False 3 100;0;0 1.313 True ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Perlman syndrome MIM# 267000 22306653;28328139;29950491 False 3 100;0;0 1.313 True ENSG00000144535 ENSG00000144535 HGNC:28648 DISP1 gene DISP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Holoprosencephaly (MONDO:0016296), DISP1-related 27363716;19184110;26748417;23542665;38529886 False 3 100;0;0 1.313 True ENSG00000154309 ENSG00000154309 HGNC:19711 DKC1 gene DKC1 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked MIM#305000;Hoyeraal-Hreidarsson syndrome (HHS) 31269755;26951492;29081935;25940403 False 3 100;0;0 1.313 True ENSG00000130826 ENSG00000130826 HGNC:2890 DLG5 gene DLG5 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauer syndrome, MIM#620703 32631816 False 3 100;0;0 1.313 True ENSG00000151208 ENSG00000151208 HGNC:2904 DLL1 gene DLL1 Expert list;Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709 31353024 False 3 50;0;50 1.313 True ENSG00000198719 ENSG00000198719 HGNC:2908 DLL3 gene DLL3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 10742114;12746394 False 3 100;0;0 1.313 True ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, MIM#616589 26299364;33899511;31261205;29924900 False 3 100;0;0 1.313 True ENSG00000128917 ENSG00000128917 HGNC:2910 DLX5 gene DLX5 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600;Split-hand/foot malformation 1 MIM#183600 22121204;24496061;25196357;20534536;12112878 False 3 100;0;0 1.313 True ENSG00000105880 ENSG00000105880 HGNC:2918 DMPK gene DMPK Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, MIM#160900 False 3 100;0;0 1.313 True Other ENSG00000104936 ENSG00000104936 HGNC:2933 DNA2 gene DNA2 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, MIM#615807 PMID: 24389050;31045292 False 3 100;0;0 1.313 True ENSG00000138346 ENSG00000138346 HGNC:2939 DNAAF1 gene DNAAF1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 19944400;19944405;32502479;29228333;27261005 False 3 100;0;0 1.313 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, 612518 19052621;31107948 False 3 100;0;0 1.313 True ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, MIM# 606763 22387996;32622824;31186518 False 3 100;0;0 1.313 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, MIM# 615482 23872636 False 3 100;0;0 1.313 True ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 18, MONDO:0013940;Ciliary dyskinesia, primary, 18, OMIM:614874 23040496;29363216;25232951 False 3 100;0;0 1.313 True ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 12142464;18022865;22102620;32633470;31879361;31765523;31040315 False 3 100;0;0 1.313 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644);Heterotaxy 16627867 False 3 100;0;0 1.313 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, MIM# 618300 30471717;30471718 False 3 100;0;0 1.313 True ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 10577904;11231901;32502479;31765523;30622330 False 3 100;0;0 1.313 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444 18950741;23261302 False 3 100;0;0 1.313 True ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB11 gene DNAJB11 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 6 with or without polycystic liver disease, 618061 29706351;29777155;33129895;34177435 False 3 100;0;0 1.313 True ENSG00000090520 ENSG00000090520 HGNC:14889 DNAJC19 gene DNAJC19 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V 610198 16055927;17244376;22797137 False 3 100;0;0 1.313 True ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 17460227;26992161;30801875 False 3 50;50;0 1.313 True Other ENSG00000087470 ENSG00000087470 HGNC:2973 DNMT3A gene DNMT3A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Tatton-Brown-Rahman syndrome, MIM# 615879;Heyn-Sproul-Jackson syndrome, MIM# 618724" 30478443;24614070 False 3 100;0;0 1.313 True ENSG00000119772 ENSG00000119772 HGNC:2978 DNMT3B gene DNMT3B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 11837609;17893117;10647011;23486536 False 3 100;0;0 1.313 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK6 gene DOCK6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, MIM#614219 21820096;23522784;25132448;25824905 False 3 100;0;0 1.313 True ENSG00000130158 ENSG00000130158 HGNC:19189 DOCK7 gene DOCK7 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 23 MIM#615859 24814191;30771731;30807358 False 3 100;0;0 1.313 True ENSG00000116641 ENSG00000116641 HGNC:19190 DOHH gene DOHH Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 35858628 False 3 100;0;0 1.313 True ENSG00000129932 ENSG00000129932 HGNC:28662 DOK7 gene DOK7 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, MIM# 254300;Fetal akinesia deformation sequence 3, MIM# 618389 16917026;18626973;20147321;16794080;31453852;29395672;32360404;19261599;31880392 False 3 100;0;0 1.313 True ENSG00000175920 ENSG00000175920 HGNC:26594 DONSON gene DONSON Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities, MIM# 617604;Microcephaly-micromelia syndrome, MIM# 251230;MONDO:0009619 28191891;28630177;28191891 False 3 100;0;0 1.313 True ENSG00000159147 ENSG00000159147 HGNC:2993 DPAGT1 gene DPAGT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964;Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 12872255;22492991;22304930;31153949;30653653;30117111;22742743;29356258;28712839;28662078 False 3 100;0;0 1.313 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPF2 gene DPF2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 7, MIM#618027 29429572;31706665 False 3 100;0;0 1.313 True ENSG00000133884 ENSG00000133884 HGNC:9964 DPH1 gene DPH1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 25558065;32732226;30877278;29362492 False 3 100;0;0 1.313 True ENSG00000108963 ENSG00000108963 HGNC:3003 DPM1 gene DPM1 Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, 608799 23856421;16641202;10642602;10642597 False 3 100;0;0 1.313 True ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, 615042 23109149;33129689 False 3 100;0;0 1.313 True ENSG00000136908 ENSG00000136908 HGNC:3006 DRG1 gene DRG1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Tan-Almurshedi syndrome, MIM# 620641 PMID: 37179472 False 3 100;0;0 1.313 True ENSG00000185721 ENSG00000185721 HGNC:3029 DSP gene DSP Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821;Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676;Epidermolysis bullosa, lethal acantholytic, MIM# 609638 30993396;16467215;23137101;26604139;22795705;31983221;24108106;16175511;20302578;20613772 False 3 100;0;0 1.313 True ENSG00000096696 ENSG00000096696 HGNC:3052 DVL1 gene DVL1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Robinow syndrome, autosomal dominant 2 (MIM#616331) 25817014;25817016 False 3 100;0;0 1.313 True ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3 MIM#616894 26924530 False 3 100;0;0 1.313 True ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia , MM#607326;Dyggve-Melchior-Clausen disease, MIM#223800 12491225;12554689;16470731;19005420 False 3 100;0;0 1.313 True ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228;Mental retardation, autosomal dominant 13, MIM# 614563;Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600 25609763;25512093;28554554 False 3 100;0;0 1.313 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC1I1 gene DYNC1I1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related 22914741;25231166;32219838 False 3 100;0;0 1.313 True ENSG00000158560 ENSG00000158560 HGNC:2963 DYNC1I2 gene DYNC1I2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 31079899 False 3 100;0;0 1.313 True ENSG00000077380 ENSG00000077380 HGNC:2964 DYNC2H1 gene DYNC2H1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127 19442771;19361615;22499340;23456818;27925158 False 3 100;0;0 1.313 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088 33030252 False 3 100;0;0 1.313 True ENSG00000138036 ENSG00000138036 HGNC:24595 DYRK1A gene DYRK1A Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7, MIM# 614104 25707398 False 3 67;0;33 1.313 True ENSG00000157540 ENSG00000157540 HGNC:3091 EBF3 gene EBF3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome MONDO:0015021;Hypotonia, ataxia, and delayed development syndrome OMIM:617330 28017373;28017372;28017370;32366537 False 3 100;0;0 1.313 True ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP Expert Review Green;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) Chondrodysplasia punctata, X-linked dominant MIM#302960;Conradi-Hunermann syndrome;MEND syndrome, MIM#300960 False 3 100;0;0 1.313 True ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, MIM# 615065 23261301;23236030;25099528;24782201 False 3 100;0;0 1.313 True ENSG00000171551 ENSG00000171551 HGNC:3147 EDN3 gene EDN3 Expert list;Expert Review Green Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, MIM# 209880;Waardenburg syndrome, type 4B, MIM# 613265;{Hirschsprung disease, susceptibility to, 4}, MIM# 613712 PMID: 8630502;11303518;9359047;10231870;30171849;27370713 False 3 100;0;0 1.313 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRA gene EDNRA Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis with alopecia, MIM# 616367 25772936;27671791 False 3 100;0;0 1.313 True ENSG00000151617 ENSG00000151617 HGNC:3179 EDNRB gene EDNRB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Waardenburg syndrome, type 4A, MIM#277580;ABCD syndrome, MIM# 600501" False 3 100;0;0 1.313 True ENSG00000136160 ENSG00000136160 HGNC:3180 EED gene EED Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, MONDO:0060510;Cohen-Gibson syndrome, OMIM:617561 25787343;27193220;27868325;28229514 False 3 50;50;0 1.313 True ENSG00000074266 ENSG00000074266 HGNC:3188 EEF2 gene EEF2 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;macrocephaly;hydrocephalus 33355653 False 3 100;0;0 1.313 True ENSG00000167658 ENSG00000167658 HGNC:3214 EFCAB1 gene EFCAB1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 53, MIM# 620642 36727596 False 3 100;0;0 1.313 True ENSG00000034239 ENSG00000034239 HGNC:25678 EFEMP2 gene EFEMP2 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 30140196;23532871;31548410;19664000 False 3 100;0;0 1.313 True ENSG00000172638 ENSG00000172638 HGNC:3219 EFNB1 gene EFNB1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies Other Craniofrontonasal dysplasia, MIM# 304110;Diaphragmatic hernia 32022998;30469162;21782985;21064195;20734337;30469162 False 3 100;0;0 1.313 True ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536;Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 22305528;23188108;33601405;33262786;26507355 False 3 100;0;0 1.313 True ENSG00000108883 ENSG00000108883 HGNC:30858 EHBP1L1 gene EHBP1L1 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related 26833786;https://dmdd.org.uk/mutants/Ehbp1l1;34645488 False 3 50;50;0 1.313 True ENSG00000173442 ENSG00000173442 HGNC:30682 EHMT1 gene EHMT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 1, MIM# 610253;MONDO:0027407 16826528;19264732;19293338;22670143;30448833 False 3 100;0;0 1.313 True ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK3 gene EIF2AK3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome MIM#226980 10932183;7551159;16813601 False 3 50;50;0 1.313 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B2 gene EIF2B2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896;congenital cataract 30266093;28597716;21484434;14566705;28041799 False 3 100;0;0 1.313 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2S3 gene EIF2S3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, OMIM:300148;MEHMO syndrome, MONDO:0010258 23063529;27333055;28055140;32799315 False 3 100;0;0 1.313 True ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 67- MIM#618295 33736665 False 3 100;0;0 1.313 True ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A3 gene EIF4A3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, MIM# 268305;Richieri-Costa-Pereira syndrome 24360810 False 3 100;0;0 1.313 True ENSG00000141543 ENSG00000141543 HGNC:18683 EIF5A gene EIF5A Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Faundes-Banka syndrome, MIM# 619376;Intellectual disability;microcephaly;dysmorphism 33547280 False 3 100;0;0 1.313 True ENSG00000132507 ENSG00000132507 HGNC:3300 ELAC2 gene ELAC2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM#615440 23849775;31045291 False 3 100;0;0 1.313 True ENSG00000006744 ENSG00000006744 HGNC:14198 ELN gene ELN Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cutis laxa 123700;Supravalvar aortic stenosis 185500 27866049;31560829;19844261;19844261 False 3 100;0;0 1.313 True ENSG00000049540 ENSG00000049540 HGNC:3327 ELOVL4 gene ELOVL4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457 24566826;26258735;30065956;22100072;24571530;33652762;10634627;8002834 False 3 100;0;0 1.313 True ENSG00000118402 ENSG00000118402 HGNC:14415 EMC1 gene EMC1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 26942288;29271071 False 3 100;0;0 1.313 True ENSG00000127463 ENSG00000127463 HGNC:28957 EML1 gene EML1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 31710781 False 3 100;0;0 1.313 True ENSG00000066629 ENSG00000066629 HGNC:3330 EN1 gene EN1 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-brain type - OMIM#619218 33568816 False 3 100;0;0 1.313 True ENSG00000163064 ENSG00000163064 HGNC:3342 EOGT gene EOGT Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, MIM#615297 23522784;31368252;29924900;31368252 False 3 100;0;0 1.313 True ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 2, MIM# 613684;Menke-Hennekam syndrome , MIM#2 618333 29506490;29460469 False 3 100;0;0 1.313 True ENSG00000100393 ENSG00000100393 HGNC:3373 EPG5 gene EPG5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 23222957;26917586 False 3 100;0;0 1.313 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPHB4 gene EPHB4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD;Lymphatic malformation 7 (MIM#617300), AD;hydrops fetalis 27400125;28687708;29444212;29905864;30578106;30819650 False 3 100;0;0 1.313 True ENSG00000196411 ENSG00000196411 HGNC:3395 ERBB3 gene ERBB3 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, MIM# 607598;Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623 31752936;17701904;33720042 False 3 100;0;0 1.313 True ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, MIM# 610758;MONDO:0012554 17273966;23623389;32557569;26085086;33315086 False 3 100;0;0 1.313 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2, MIM# 610756;MONDO:0012553 7849702;9758621;11443545;33733458 False 3 100;0;0 1.313 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B 61, MIM#0651;Trichothiodystrophy 2, photosensitive, MIM# 616390 2167179;10447254;16947863;9012405;32557569;27004399 False 3 100;0;0 1.313 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group Q, MIM# 615272;MONDO:0014108;XFE progeroid syndrome, MIM# 610965 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 1.313 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 32557569;32052936;7951246;9096355;9096355;24700531;33766032;33219753 False 3 50;50;0 1.313 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM#133540;Cerebrooculofacioskeletal syndrome 1, MIM#214150;De Sanctis-Cacchione syndrome, MIM#278800 20301516;20456449;9443879;8566949 False 3 100;0;0 1.313 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400 14661080;21108394 False 3 100;0;0 1.313 True ENSG00000049167 ENSG00000049167 HGNC:3439 ERF gene ERF Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chitayat syndrome, MIM#617180;Craniosynostosis 4, MIM#600775 23354439;26097063;32370745;30758909 False 3 100;0;0 1.313 True ENSG00000105722 ENSG00000105722 HGNC:3444 ERGIC1 gene ERGIC1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 2, neurogenic type;OMIM # 208100 28317099;34037256;31230720 False 3 100;0;0 1.313 True ENSG00000113719 ENSG00000113719 HGNC:29205 ERI1 gene ERI1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 37352860 False 3 100;0;0 1.313 True ENSG00000104626 ENSG00000104626 HGNC:23994 ESAM gene ESAM Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 36996813 False 3 100;0;0 1.313 True ENSG00000149564 ENSG00000149564 HGNC:17474 ESCO2 gene ESCO2 Expert Review Green;Genomics England PanelApp;Literature;NHS GMS Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Juberg-Hayward syndrome, MIM# 216100;Roberts-SC phocomelia syndrome, MIM#268300 19574259;19574259;16380922;32977150 False 3 67;33;0 1.313 True ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM#231680 False 3 100;0;0 1.313 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia IIB, MIM#231680 False 3 100;0;0 1.313 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM#231680 False 3 100;0;0 1.313 True ENSG00000171503 ENSG00000171503 HGNC:3483 EVC gene EVC Expert Review;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500 23220543 False 3 25;50;25 1.313 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome (MIM#225500) 23220543 False 3 50;50;0 1.313 True ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, MIM# 620943 28749478;27894351;30327448;34974531 False 3 100;0;0 1.313 True ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC7 gene EXOC7 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with seizures and brain atrophy MIM#619072" 32103185 False 3 100;0;0 1.313 True ENSG00000182473 ENSG00000182473 HGNC:23214 EXOSC3 gene EXOSC3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B 614678 22544365;25149867;23284067;24524299 False 3 100;0;0 1.313 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC5 gene EXOSC5 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576 32504085;29302074 False 3 100;0;0 1.313 True ENSG00000077348 ENSG00000077348 HGNC:24662 EXOSC8 gene EXOSC8 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C - MIM#616081 34210538;24989451 False 3 100;0;0 1.313 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1D - MIM#618065 33040083;30690203;29727687 False 3 100;0;0 1.313 True ENSG00000123737 ENSG00000123737 HGNC:9137 EXT1 gene EXT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 1 133700;Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 7550340;9521425 False 3 100;0;0 1.313 True ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, MIM#616682;Exostoses, multiple, type 2, MIM# 133701 30288735;30075207;26246518 False 3 100;0;0 1.313 True ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 28132690;28148688 False 3 100;0;0 1.313 True ENSG00000012232 ENSG00000012232 HGNC:3518 EYA1 gene EYA1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment anomalies with or without cataract MIM#602588;Branchiootic syndrome 1 MIM#602588;Branchiootorenal syndrome 1, with or without cataracts MIM#113650 9359046;13269867;263442 False 3 100;0;0 1.313 True ENSG00000104313 ENSG00000104313 HGNC:3519 EZH2 gene EZH2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome MIM#277590 29244146;23865096 False 3 100;0;0 1.313 True ENSG00000106462 ENSG00000106462 HGNC:3527 FAM111A gene FAM111A Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kenny-Caffey syndrome, type 2, MIM# 127000 32996714;23684011;33750016 False 3 100;0;0 1.313 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAM126A gene FAM126A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5 MIM#610532 21911699;17928815;17683097;16951682 False 3 100;0;0 1.313 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM149B1 gene FAM149B1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36 - MIM#618763 30905400 False 3 100;0;0 1.313 True ENSG00000138286 ENSG00000138286 HGNC:29162 FAM20C gene FAM20C Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Raine syndrome MIM#259775 19250384;20825432;17924334 False 3 100;0;0 1.313 True ENSG00000177706 ENSG00000177706 HGNC:22140 FAM46A gene FAM46A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type 18, MONDO:0044329;Osteogenesis imperfecta, type XVIII, OMIM:617952 29358272 False 3 100;0;0 1.313 True ENSG00000112773 ENSG00000112773 HGNC:18345 FAM58A gene FAM58A Expert Review Green;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) STAR syndrome MIM#300707 18297069;8818947;28225384 False 3 100;0;0 1.313 True - ENSG00000262919 HGNC:28434 FANCA gene FANCA Expert Review;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 20301575;10094191 False 3 100;0;0 1.313 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514;MONDO:0010351 28425981;21910217;15502827 False 3 100;0;0 1.313 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 20301575;31044565;30792206;28717661 False 3 100;0;0 1.313 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646 20301575;17436244 False 3 100;0;0 1.313 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 20301575;11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.313 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 20301575;10615118;31288759 False 3 100;0;0 1.313 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 20301575;9806548;12552564 False 3 100;0;0 1.313 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group I, MIM# 609053;MONDO:0012186 20301575;17452773 False 3 100;0;0 1.313 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, OMIM:614083;Fanconi anemia complementation group L, MONDO:0013566 19405097;25754594;33394227;33224012 False 3 100;0;0 1.313 True ENSG00000115392 ENSG00000115392 HGNC:20748 FAR1 gene FAR1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154;Cataracts, spastic paraparesis, and speech delay, MIM#619338 25439727;33239752 False 3 100;0;0 1.313 True ENSG00000197601 ENSG00000197601 HGNC:26222 FAT1 gene FAT1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies;nephropathy;ocular anomalies;hand and foot anomalies 30862798;26905694;34202629;34013115;33418956;32902815 False 3 100;0;0 1.313 True ENSG00000083857 ENSG00000083857 HGNC:3595 FAT4 gene FAT4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006;Van Maldergem syndrome 2 MIM#615546 29681106 False 3 100;0;0 1.313 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IA, MIM#219100 False 3 100;0;0 1.313 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM# 154700 30266093;31829751;33461977 False 3 100;0;0 1.313 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Contractural arachnodactyly, congenital OMIM:121050;congenital contractural arachnodactyly MONDO:0007363 25558065;7493032;28383543;33571691 False 3 100;0;0 1.313 True ENSG00000138829 ENSG00000138829 HGNC:3604 FBRSL1 gene FBRSL1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital malformations;congenital heart defect 32424618;34805182 False 3 100;0;0 1.313 True ENSG00000112787 ENSG00000112787 HGNC:29308 FBXL4 gene FBXL4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 28940506 False 3 100;0;0 1.313 True ENSG00000112234 ENSG00000112234 HGNC:13601 FBXW11 gene FBXW11 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 False 3 100;0;0 1.313 True ENSG00000072803 ENSG00000072803 HGNC:13607 FGD1 gene FGD1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM # 305400;Mental retardation, X-linked syndromic 16, MIM# 305400 7954831;20082460 False 3 100;0;0 1.313 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGF10 gene FGF10 Expert Review Green;Genomics England PanelApp;NHS GMS Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lacrimoauriculodentodigital syndrome (149730) 15654336;16501574;16630169;17682060 False 3 100;0;0 1.313 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGF3 gene FGF3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 21480479;21306635;18435799;17236138;21306635;18701883;8223243;26995070;29902227;30504125 False 3 100;0;0 1.313 True ENSG00000186895 ENSG00000186895 HGNC:3681 FGF8 gene FGF8 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly;MONDO:0016296 20463092;18596921;24280688;27363716;29584859;20301509 False 3 50;50;0 1.313 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGF9 gene FGF9 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome 3, OMIM # 612961;Craniosynostosis 33140402;28730625;19589401;33174625;19219044;28730625 False 3 100;0;0 1.313 True ENSG00000102678 ENSG00000102678 HGNC:3687 FGFR1 gene FGFR1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pfeiffer syndrome, MIM# 101600 False 3 100;0;0 1.313 True Other ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730;Apert syndrome, MIM# 101200;Crouzon syndrome, MIM# 123500;Jackson-Weiss syndrome, MIM# 123150;Pfeiffer syndrome, MIM# 101600;Saethre-Chotzen syndrome, MIM# 101400 28425981 False 3 100;0;0 1.313 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730;Achondroplasia, MIM# 100800;Thanatophoric dysplasia, type I, MIM# 187600;Thanatophoric dysplasia, type II, MIM# 187601 False 3 100;0;0 1.313 True ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM# 606812 23137060 False 3 100;0;0 1.313 True ENSG00000091483 ENSG00000091483 HGNC:3700 FIG4 gene FIG4 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome, OMIM:216340;Yunis-Varon syndrome, MONDO:0008995;?Polymicrogyria, bilateral temporooccipital, OMIM:612691;Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 23623387;18758830;24598713 False 3 50;50;0 1.313 True ENSG00000112367 ENSG00000112367 HGNC:16873 FILIP1 gene FILIP1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal ANeuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 36943452 False 3 100;0;0 1.313 True ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP10 gene FKBP10 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 1, MONDO:0009806;Osteogenesis imperfecta, type XI, OMIM:610968;Osteogenesis imperfecta type 11, MONDO:0012592;Bruck syndrome 1, OMIM:259450 20696291;20362275;20839288;21567934;21567934;23712425;22718341 False 3 100;0;0 1.313 True ENSG00000141756 ENSG00000141756 HGNC:18169 FKBP14 gene FKBP14 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557 22265013;24773188;27149304;31132235;30561154;28617417 False 3 50;50;0 1.313 True ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 26833294;30461124;24139536;20236121;15833426 False 3 33;67;0 1.313 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 18177472;17878207 False 3 50;50;0 1.313 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert list;Expert Review Green;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) Melnick-Needles syndrome, 309350;Otopalatodigital syndrome, type I 311300;Otopalatodigital syndrome, type II 304120;Terminal osseous dysplasia 300244;Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400 30712878;28425981;12612583 False 3 100;0;0 1.313 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Larsen syndrome, MIM#150250;Atelosteogenesis, type I, MIM# 108720;Atelosteogenesis, type III, MIM# 108721;Boomerang dysplasia, MIM# 112310;Spondylocarpotarsal synostosis syndrome, MIM# 272460 False 3 100;0;0 1.313 True ENSG00000136068 ENSG00000136068 HGNC:3755 FLNC gene FLNC Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis;congenital myopathy;Myopathy, myofibrillar, 5 - MIM#609524 29858533;30260051;32516863 False 3 100;0;0 1.313 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLT4 gene FLT4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Congenital heart defects, multiple types, 7, MIM# 618780;Lymphatic malformation 1, MIM# 153100" 30232381;9817924;10835628;12960217 False 3 100;0;0 1.313 True ENSG00000037280 ENSG00000037280 HGNC:3767 FLVCR1 gene FLVCR1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related;Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 39306721 False 3 100;0;0 1.313 True ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 Expert Review Green;Genomics England PanelApp;Other Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 30712878;20206334;20518025;20690116;25677735 False 3 50;0;50 1.313 True ENSG00000119686 ENSG00000119686 HGNC:20105 FOSL2 gene FOSL2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 36197437 False 3 100;0;0 1.313 True ENSG00000075426 ENSG00000075426 HGNC:3798 FOXC1 gene FOXC1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 3, MIM# 602482 32720677;30255586 False 3 50;0;50 1.313 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphoedema-distichiasis syndrome, MIM# 153400 33461977;27663689;11078474;11694548;11371511 False 3 100;0;0 1.313 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome, MIM# 241850;MONDO:0009437 9697705;12165566;16882747;24219130;20484477 False 3 100;0;0 1.313 True ENSG00000178919 ENSG00000178919 HGNC:3806 FOXE3 gene FOXE3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256;Cataract 34, multiple types, OMIM:612968 27218149;21150893;31884615;29878917;29713869 False 3 100;0;0 1.313 True ENSG00000186790 ENSG00000186790 HGNC:3808 FOXF1 gene FOXF1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 19500772;23505205 False 3 100;0;0 1.313 True ENSG00000103241 ENSG00000103241 HGNC:3809 FOXG1 gene FOXG1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270 21441262;19564653;19578037;27029630;28661489 False 3 100;0;0 1.313 True ENSG00000176165 ENSG00000176165 HGNC:3811 FOXJ1 gene FOXJ1 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ciliary dyskinesia, primary, 43 - MIM# 618699 31630787 False 3 100;0;0 1.313 True ENSG00000129654 ENSG00000129654 HGNC:3816 FOXP3 gene FOXP3 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 28425981;33637067;30813833;33330291 False 3 50;0;50 1.313 True ENSG00000049768 ENSG00000049768 HGNC:6106 FOXRED1 gene FOXRED1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 33613441 False 3 100;0;0 1.313 True ENSG00000110074 ENSG00000110074 HGNC:26927 FRA10AC1 gene FRA10AC1 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 PMID: 34694367 False 3 100;0;0 1.313 True ENSG00000148690 ENSG00000148690 HGNC:1162 FRAS1 gene FRAS1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, MIM#219000 False 3 100;0;0 1.313 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Manitoba oculotrichoanal syndrome 248450;Bifid nose with or without anorectal and renal anomalies, MIM# 608980;Trigonocephaly 2, MIM# 614485 32016392;21931569;21507892;19732862;20301721;28111185 False 3 100;0;0 1.313 True ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cryptophthalmos, unilateral or bilateral, isolated MIM#123570;Fraser syndrome 2 MIM#617666 15838507;18203166;29688405;33082983 False 3 100;0;0 1.313 True ENSG00000150893 ENSG00000150893 HGNC:25396 FRMPD4 gene FRMPD4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual Disability, X-linked 104, MIM#300983 25644381;29267967 False 3 100;0;0 1.313 True ENSG00000169933 ENSG00000169933 HGNC:29007 FRYL gene FRYL Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, MIM# 621049 38479391 False 3 50;50;0 1.313 True ENSG00000075539 ENSG00000075539 HGNC:29127 FTL gene FTL Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperferritinemia-cataract syndrome, MIM# 600886 False 3 100;0;0 1.313 True ENSG00000087086 ENSG00000087086 HGNC:3999 FTO gene FTO Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism - MIM#612938;multiple congenital malformations 19234441;19559399;26378117;26697951;26378117;26740239 False 3 50;50;0 1.313 True ENSG00000140718 ENSG00000140718 HGNC:24678 FUT8 gene FUT8 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005;Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 29304374 False 3 100;0;0 1.313 True ENSG00000033170 ENSG00000033170 HGNC:4019 FUZ gene FUZ Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neural tube defects 182940;Ciliopathy_MONDO_0005308, FUZ-related;skeletal ciliopathy 21840926;38702430;29068549;34719684 False 3 50;0;50 1.313 True ENSG00000010361 ENSG00000010361 HGNC:26219 FYCO1 gene FYCO1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cataract 18 (MIM#610019) AR 32355443 False 3 100;0;0 1.313 True ENSG00000163820 ENSG00000163820 HGNC:14673 FZD2 gene FZD2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant omodysplasia, MONDO:0008123;Omodysplasia 2, OMIM:164745 25759469;30455931;29383834;29230162 False 3 100;0;0 1.313 True ENSG00000180340 ENSG00000180340 HGNC:4040 G6PC3 gene G6PC3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dursun syndrome 612541;Neutropenia, severe congenital 4, autosomal recessive 612541 20717171;21385794 False 3 50;50;0 1.313 True ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II MIM#232300 False 3 100;0;0 1.313 True ENSG00000171298 ENSG00000171298 HGNC:4065 GABRB2 gene GABRB2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 92 MIM#617829 29100083;27789573;33325057 False 3 100;0;0 1.313 True Other ENSG00000145864 ENSG00000145864 HGNC:4082 GALE gene GALE Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency MIM#230350 21290786 False 3 100;0;0 1.313 True ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts MIM#230200 27604308;5129682 False 3 100;0;0 1.313 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM# 253000;MONDO:0009659 9298823 False 3 100;0;0 1.313 True ENSG00000141012 ENSG00000141012 HGNC:4122 GATA1 gene GATA1 Expert list;Expert Review Green Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 10700180 False 3 100;0;0 1.313 True ENSG00000102145 ENSG00000102145 HGNC:4170 GATA3 gene GATA3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255;Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797 29663634 False 3 100;0;0 1.313 True ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 2 MIM#607941;Atrioventricular septal defect 4 MIM#614430;Ventricular septal defect 1 MIM#614429 12845333;18055909;15689439;33413087;30455927 False 3 100;0;0 1.313 True ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic agenesis and congenital heart defects, MIM# 600001 31301121 False 3 100;0;0 1.313 True ENSG00000141448 ENSG00000141448 HGNC:4174 GBA gene GBA Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, MIM# 608013 30712880;12838552 False 3 100;0;0 1.313 True ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence;Glycogen storage disease IV, OMIM:232500 21620786;30303820 False 3 100;0;0 1.313 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I MIM#231670 31536184 False 3 100;0;0 1.313 True ENSG00000105607 ENSG00000105607 HGNC:4189 GDF1 gene GDF1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6 613854;Right atrial isomerism (Ivemark) 208530 17924340;20413652;28991257;32144877 False 3 100;0;0 1.313 True ENSG00000130283 ENSG00000130283 HGNC:4214 GDF11 gene GDF11 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 31215115;34113007 False 3 100;0;0 1.313 True ENSG00000135414 ENSG00000135414 HGNC:4216 GDF5 gene GDF5 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Grebe type chondrodysplasia (MIM#200700);Du Pan syndrome (MIM#228900) 33333243 False 3 100;0;0 1.313 True ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple synostoses syndrome 4 (MIM#617898) 32737436 False 3 100;0;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 ENSG00000156466 ENSG00000156466 HGNC:4221 GFAP gene GFAP Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease MIM#203450 20301351 False 3 100;0;0 1.313 True ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 MIM#609060 31680380;25852744;26937387 False 3 100;0;0 1.313 True ENSG00000168827 ENSG00000168827 HGNC:13780 GFRA1 gene GFRA1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 4, MIM# 619887 33020172;34737117 False 3 100;0;0 1.313 True ENSG00000151892 ENSG00000151892 HGNC:4243 GHR gene GHR Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial, MIM#604271;Laron dwarfism, MIM#262500 9360502 False 3 100;0;0 1.313 True ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrioventricular septal defect 3, MIM#600309;Craniometaphyseal dysplasia, autosomal recessive, MIM#218400;Hypoplastic left heart syndrome 1, MIM#241550;Oculodentodigital dysplasia, MIM#164200;Oculodentodigital dysplasia, autosomal recessive, MIM#257850;Syndactyly, type III, MIM# 186100 False 3 100;0;0 1.313 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJA3 gene GJA3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 14, multiple types MIM#601885 False 3 50;0;50 1.313 True ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 1, multiple types, MIM# 116200;Microphthalmia 30498267;29464339 False 3 100;0;0 1.313 True ENSG00000121634 ENSG00000121634 HGNC:4281 GJC2 gene GJC2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2 MIM#608804 19056803;31431325;25059390 False 3 100;0;0 1.313 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I MIM#230500;GM1-gangliosidosis, type II MIM# 230600;GM1-gangliosidosis, type III MIM#230650;Mucopolysaccharidosis type IVB (Morquio) MIM#253010 24156116 False 3 100;0;0 1.313 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDN gene GLDN Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 11, MIM# 617194;MONDO:0014965 27616481;32812332;28726266 False 3 100;0;0 1.313 True ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, MIM# 253310 18204449;22357925 False 3 100;0;0 1.313 True ENSG00000119392 ENSG00000119392 HGNC:4315 GLI1 gene GLI1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly, preaxial I, OMIM:174400;Polydactyly, postaxial, type A8, MONDO:0029130;Polydactyly, postaxial, type A8, OMIM:618123;Preaxial polydactyly of fingers, MONDO:0017425 34721536;31621941;31549748;30620395 False 3 100;0;0 1.313 True ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome, MIM#615849;Holoprosencephaly 9, MIM# 61082 14581620;17096318;33235745;27585885;15994174;20685856;30629636;30583238 False 3 100;0;0 1.313 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, MIM# 175700;Polydactyly False 3 50;50;0 1.313 True ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM#611498;MONDO:0012680 17618285;23559409;31676329 False 3 50;50;0 1.313 True ENSG00000126603 ENSG00000126603 HGNC:29450 GLIS3 gene GLIS3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 21139041 False 3 100;0;0 1.313 True ENSG00000107249 ENSG00000107249 HGNC:28510 GLUL gene GLUL Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital MIM#610015 16267323;21353613;33150193 False 3 50;50;0 1.313 True ENSG00000135821 ENSG00000135821 HGNC:4341 GMNN gene GMNN Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meier-Gorlin syndrome 6, OMIM:616835;Meier-Gorlin syndrome 6, MONDO:0014794 26637980 False 3 100;0;0 1.313 True ENSG00000112312 ENSG00000112312 HGNC:17493 GMPPB gene GMPPB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 False 3 100;0;0 1.313 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNAI3 gene GNAI3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auriculocondylar syndrome 1, OMIM #602483 22560091 False 3 100;0;0 1.313 True ENSG00000065135 ENSG00000065135 HGNC:4387 GNAO1 gene GNAO1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 17, MIM#615473;Neurodevelopmental disorder with involuntary movements, MIM# 617493 28747448;30682224 False 3 100;0;0 1.313 True ENSG00000087258 ENSG00000087258 HGNC:4389 GNAS gene GNAS Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ia, MIM# 103580 29072892 False 3 100;0;0 1.313 True ENSG00000087460 ENSG00000087460 HGNC:4392 GNB1 gene GNB1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 42, MIM# 616973;intellectual disability, autosomal dominant 42 MONDO:0014855 32134617;27108799;30194818;27668284;31034681 False 3 100;0;0 1.313 True ENSG00000078369 ENSG00000078369 HGNC:4396 GNPAT gene GNPAT Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765;MONDO:0009112 9536089;11152660;21990100 False 3 100;0;0 1.313 True ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta MIM#252500;Mucolipidosis III alpha/beta MIM#252600 20301728 False 3 100;0;0 1.313 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNS gene GNS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, MIM# 252940;Sanfilippo syndrome type D, MONDO:0009658 12573255;12624138;31536183;25851924 False 3 100;0;0 1.313 True ENSG00000135677 ENSG00000135677 HGNC:4422 GON4L gene GON4L Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 39500882;21937992 False 3 100;0;0 1.313 True ENSG00000116580 ENSG00000116580 HGNC:25973 GORAB gene GORAB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum MIM#231070 18348262;28807865;30631079 False 3 100;0;0 1.313 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPC3 gene GPC3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 False 3 100;0;0 1.313 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPC6 gene GPC6 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1, OMIM:258315;Autosomal recessive omodysplasia, MONDO:0009779 19481194;32655339 False 3 100;0;0 1.313 True ENSG00000183098 ENSG00000183098 HGNC:4454 GPI gene GPI Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 29227722;3796702;469896;26509025 False 3 100;0;0 1.313 True ENSG00000105220 ENSG00000105220 HGNC:4458 GPSM2 gene GPSM2 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 1.313 True ENSG00000121957 ENSG00000121957 HGNC:29501 GPX4 gene GPX4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 24706940;32827718 False 3 100;0;0 1.313 True ENSG00000167468 ENSG00000167468 HGNC:4556 GREB1L gene GREB1L Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, MIM#617805;renal agenesis 29261186;32378186;31974414;31424080;29100091;29955957;32585897 False 3 100;0;0 1.313 True ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL3 gene GRHL3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Van der Woude syndrome 2 MIM#606713 24360809;29500247 False 3 100;0;0 1.313 True ENSG00000158055 ENSG00000158055 HGNC:25839 GRIN1 gene GRIN1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 29365063;27164704;27164704;28051072 False 3 100;0;0 1.313 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2B gene GRIN2B Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6, MIM# 613970;Epileptic encephalopathy, early infantile, 27, MIM# 616139 28377535 False 3 100;0;0 1.313 True ENSG00000273079 ENSG00000273079 HGNC:4586 GRIP1 gene GRIP1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3 MIM#617667 22510445;27859469;31982235 False 3 100;0;0 1.313 True ENSG00000155974 ENSG00000155974 HGNC:18708 GRM7 gene GRM7 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities MIM#618922" 32286009;32248644 False 3 100;0;0 1.313 True ENSG00000196277 ENSG00000196277 HGNC:4599 GSC gene GSC Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227;Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471 24290375 False 3 100;0;0 1.313 True ENSG00000133937 ENSG00000133937 HGNC:4612 GTF2H5 gene GTF2H5 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive (MIM# 616395) 15220921;24986372 False 3 100;0;0 1.313 True ENSG00000272047 ENSG00000272047 HGNC:21157 GTPBP2 gene GTPBP2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Jaberi-Elahi syndrome MIM#617988" 26675814;29449720;30790272 False 3 100;0;0 1.313 True ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23 MIM#616198 34276756;25434004 False 3 50;50;0 1.313 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUCY2C gene GUCY2C Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meconium ileus, MIM# 614665 22521417;33883099;31079856 False 3 50;0;50 1.313 True ENSG00000070019 ENSG00000070019 HGNC:4688 GUSB gene GUSB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220;MONDO:0009662 False 3 100;0;0 1.313 True ENSG00000169919 ENSG00000169919 HGNC:4696 GZF1 gene GZF1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, OMIM:617662;Joint laxity, short stature, and myopia, MONDO:0060556 33009817;28475863 False 3 100;0;0 1.313 True ENSG00000125812 ENSG00000125812 HGNC:15808 H3F3A gene H3F3A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bryant-Li-Bhoj neurodevelopmental syndrome 1, MIM# 619720" 33268356 False 3 100;0;0 1.313 True ENSG00000163041 ENSG00000163041 HGNC:4764 HAAO gene HAAO Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1 617660 28792876;33942433 False 3 100;0;0 1.313 True ENSG00000162882 ENSG00000162882 HGNC:4796 HADHA gene HADHA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, MIM# 609016 False 3 100;0;0 1.313 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, OMIM:609015;Mitochondrial trifunctional protein deficiency, MONDO:0012172 False 3 100;0;0 1.313 True ENSG00000138029 ENSG00000138029 HGNC:4803 HBA1 gene HBA1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thalassaemia, alpha-, 604131;Fetal hydrops False 3 100;0;0 1.313 True ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thalassaemia, alpha-, 604131;Fetal hydrops False 3 100;0;0 1.313 True ENSG00000188536 ENSG00000188536 HGNC:4824 HCCS gene HCCS Expert Review Green;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) Linear skin defects with multiple congenital anomalies 1, MIM# 309801 30266093 False 3 100;0;0 1.313 True ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 34164576;24011988 False 3 100;0;0 1.313 True ENSG00000172534 ENSG00000172534 HGNC:4839 HDAC8 gene HDAC8 Expert Review Green;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) Cornelia de Lange syndrome 5, MIM# 300882 30614194;24403048 False 3 100;0;0 1.313 True ENSG00000147099 ENSG00000147099 HGNC:13315 HERC1 gene HERC1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011 28323226;27108999;26153217;26138117 False 3 100;0;0 1.313 True ENSG00000103657 ENSG00000103657 HGNC:4867 HES7 gene HES7 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive 613686 29459493;23897666;18775957;20087400 False 3 100;0;0 1.313 True ENSG00000179111 ENSG00000179111 HGNC:15977 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Septooptic dysplasia, OMIM:182230;Septooptic dysplasia, MONDO:0008428 11136712 False 3 100;0;0 1.313 True ENSG00000163666 ENSG00000163666 HGNC:4877 HHAT gene HHAT Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome 600092 24784881;30912300;33749989 False 3 100;0;0 1.313 True ENSG00000054392 ENSG00000054392 HGNC:18270 HIBCH gene HIBCH Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 26026795;25251209;24299452;32677093 False 3 100;0;0 1.313 True ENSG00000198130 ENSG00000198130 HGNC:4908 HIST1H1E gene HIST1H1E Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rahman syndrome, OMIM:617537;Rahman syndrome, MONDO:0044323 28475857;33270410;31910894;31400068 False 3 100;0;0 1.313 True ENSG00000168298 ENSG00000168298 HGNC:4718 HIST1H4C gene HIST1H4C Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 28920961 False 3 67;33;0 1.313 True ENSG00000197061 ENSG00000197061 HGNC:4787 HIVEP2 gene HIVEP2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 43, MIM# 616977 26153216;27003583;16836985;31602191;31207095 False 3 100;0;0 1.313 True ENSG00000010818 ENSG00000010818 HGNC:4921 HMGA2 gene HMGA2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 5, OMIM:618908;Silver-Russell syndrome 5, MONDO:0020795 32421827;29655892;25809938;29453418;29655892;28796236 False 3 100;0;0 1.313 True ENSG00000149948 ENSG00000149948 HGNC:5009 HMGB1 gene HMGB1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, HMGB1-related;microcephaly;intellectual disability;brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 34164801;36755093;34159400 False 3 100;0;0 1.313 True ENSG00000189403 ENSG00000189403 HGNC:4983 HMX1 gene HMX1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, MIM#612109 False 3 100;0;0 1.313 True ENSG00000215612 ENSG00000215612 HGNC:5017 HNF1B gene HNF1B Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 False 3 100;0;0 1.313 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026 False 3 100;0;0 1.313 True ENSG00000101076 ENSG00000101076 HGNC:5024 HNRNPH2 gene HNRNPH2 Expert Review Green;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, Bain type MIM#300986 34907471;33728377;31670473;31236915;30887513 False 3 100;0;0 1.313 True ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPK gene HNRNPK Expert Review Green;Genomics England PanelApp;Other Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome, MIM#616580 30998304;26173930;29904177;26954065;28771707 False 3 100;0;0 1.313 True ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA1 gene HOXA1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome MIM#601536;Bosley-Salih-Alorainy syndrome MIM#601536 16155570;18412118;32864817 False 3 100;0;0 1.313 True ENSG00000105991 ENSG00000105991 HGNC:5099 HOXA13 gene HOXA13 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, MIM# 140000 False 3 100;0;0 1.313 True ENSG00000106031 ENSG00000106031 HGNC:5102 HOXA2 gene HOXA2 Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia with or without hearing impairment (AD) - MIM#612290 18394579;23775976;27503514;28109504;31567444;32649979 False 3 100;0;0 1.313 True ENSG00000105996 ENSG00000105996 HGNC:5103 HOXD13 gene HOXD13 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type D MIM#113200;Brachydactyly, type E MIM#113300;Syndactyly, type V MIM#186300;Synpolydactyly 1 MIM#186000 False 3 100;0;0 1.313 True ENSG00000128714 ENSG00000128714 HGNC:5136 HPSE2 gene HPSE2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 MIM#236730 25145936;23313374;33558177 False 3 100;0;0 1.313 True ENSG00000172987 ENSG00000172987 HGNC:18374 HRAS gene HRAS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 28425981;16329078;16372351;16443854 False 3 100;0;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 ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194;multiple congenital anomalies;arthrogryposis 33159882 False 3 100;0;0 1.313 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B3 gene HSD17B3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia 264300 False 3 100;0;0 1.313 True ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515) 27790638 False 3 100;0;0 1.313 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSPA9 gene HSPA9 Expert list;Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Even-plus syndrome - MIM#616854;Anemia, sideroblastic, 4- #182170 26598328;32869452;26491070 False 3 100;0;0 1.313 True ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, MIM# 612233 18571143;27405012;32532876;28377887;27405012 False 3 100;0;0 1.313 True ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139);Schwartz-Jampel syndrome, MONDO:0009717;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140;Schwartz-Jampel syndrome, type 1, OMIM:255800;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 38424183 False 3 100;0;0 1.313 True ENSG00000142798 ENSG00000142798 HGNC:5273 HUWE1 gene HUWE1 Expert Review Green;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 syndromic, Turner type, MIM#309590 False 3 100;0;0 1.313 True ENSG00000086758 ENSG00000086758 HGNC:30892 HYAL2 gene HYAL2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063 34906488;28081210;23172227;26515055 False 3 100;0;0 1.313 True ENSG00000068001 ENSG00000068001 HGNC:5321 HYLS1 gene HYLS1 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680);Ciliopathy 15843405;18648327;19400947;19656802;32509774;26830932 False 3 50;50;0 1.313 True ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093 27426735;27891590 False 3 100;0;0 1.313 True ENSG00000196305 ENSG00000196305 HGNC:5330 ICK gene ICK Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 24853502;19185282;27466187;27069622;24797473 False 3 100;0;0 1.313 True ENSG00000112144 ENSG00000112144 HGNC:21219 IDS gene IDS Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II MIM#309900;MONDO:0010674;Hunter syndrome 9921913;9762601;8940265;1901826 False 3 100;0;0 1.313 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Amber;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih (MIM#607014);Mucopolysaccharidosis Ih/s (MIM#607015);Mucopolysaccharidosis Is (MIM#6070);Mucopolysaccharidosis type 1, MONDO:0001586 27928775 False 3 50;50;0 1.313 True ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 21835305;22991235;24138066;28711742 False 3 100;0;0 1.313 True ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aicardi-Goutieres syndrome 7 MIM#615846;Singleton-Merten syndrome 1, MIM# 182250" 25542954;31898846;28605144;26284909;28475458 False 3 100;0;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 ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V MIM#610967 22863190;22863195;32383316;24519609 False 3 100;0;0 1.313 True ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;Beemer-Langer syndrome 20493458;23826986;26792575;29220510;28370949;27681595;27681595 False 3 100;0;0 1.313 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 22503633;23418020;28288023;28724397;26216056;26968735;34890546 False 3 100;0;0 1.313 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630;Bardet-Biedl syndrome 24140113 False 3 100;0;0 1.313 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19-MIM#615996 24488770;30761183;26763875;25443296 False 3 100;0;0 1.313 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Cranioectodermal dysplasia 3, MIM# 614099 28400947;21378380;29896747 False 3 100;0;0 1.313 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 27466190;26880018;31042281;30242358 False 3 100;0;0 1.313 True ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 22 - MIM#617119;Joubert syndrome 40 - MIM#619582 33531668;27486776;32144365 False 3 100;0;0 1.313 True ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263;MONDO:0012644 17468754;19648123;30767363 False 3 100;0;0 1.313 True ENSG00000068885 ENSG00000068885 HGNC:29262 IGF1 gene IGF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 8857020;15769976;14684690;31539878;28768959;34125705;22832530 False 3 100;0;0 1.313 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, MIM# 270450 31586944 False 3 100;0;0 1.313 True ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Growth restriction, severe, with distinctive facies, MIM#616489 31544945;26154720 False 3 100;0;0 1.313 True ENSG00000167244 ENSG00000167244 HGNC:5466 IGHMBP2 gene IGHMBP2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI MIM#604320;SMA with respiratory distress, SMARD1 14681881;23560007;30863264 False 3 100;0;0 1.313 True ENSG00000132740 ENSG00000132740 HGNC:5542 IHH gene IHH Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Acrocapitofemoral dysplasia MIM#607778;Brachydactyly, type A1 MIM#112500 34530144;12632327;32311039;29155992 False 3 100;0;0 1.313 True ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG Expert Review Green;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) ncontinentia pigmenti, MIM# 308300 22564885;12975158;20499493;10893071 False 3 50;50;0 1.313 True ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies, MIM# 614188 21741611;32277509;30811827;29926465;24498618 False 3 100;0;0 1.313 True ENSG00000137070 ENSG00000137070 HGNC:5967 IMPAD1 gene IMPAD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type MIM#614078 22887726;21549340 False 3 100;0;0 1.313 True ENSG00000104331 ENSG00000104331 HGNC:26019 INPP5E gene INPP5E Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944 19668216;32139166;29230161;29052317;27998989;27401686 False 3 100;0;0 1.313 True ENSG00000148384 ENSG00000148384 HGNC:21474 INPPL1 gene INPPL1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia MIM#258480 23273567;34529350;34094554 False 3 100;0;0 1.313 True ENSG00000165458 ENSG00000165458 HGNC:6080 INSR gene INSR Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leprechaunism, MIM# 246200 False 3 100;0;0 1.313 True ENSG00000171105 ENSG00000171105 HGNC:6091 INTS1 gene INTS1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - MIM#618571 28542170;30622326;31428919 False 3 100;0;0 1.313 True ENSG00000164880 ENSG00000164880 HGNC:24555 INTS13 gene INTS13 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Oral-facial-digital syndrome, MONDO:0015375, INTS13-related PMID: 36229431 False 3 100;0;0 1.313 True ENSG00000064102 ENSG00000064102 HGNC:20174 INTU gene INTU Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVII MIM#617926;Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 28289185;29451301;30266093;34623732;27158779 False 3 100;0;0 1.313 True ENSG00000164066 ENSG00000164066 HGNC:29239 INVS gene INVS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, MIM# 602088 12872123;19177160 False 3 100;0;0 1.313 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQCE gene IQCE Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A7 - MIM#617642 31549751;28488682 False 3 100;0;0 1.313 True ENSG00000106012 ENSG00000106012 HGNC:29171 IRF6 gene IRF6 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Popliteal pterygium syndrome 1MIM#119500;van der Woude syndrome MIM#119300 False 3 100;0;0 1.313 True ENSG00000117595 ENSG00000117595 HGNC:6121 IRX5 gene IRX5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hamamy syndrome, MIM# 611174 22581230;27453922 False 3 100;0;0 1.313 True ENSG00000176842 ENSG00000176842 HGNC:14361 ISPD gene ISPD Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 22522421;22522420;23217329 False 3 100;0;0 1.313 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA3 gene ITGA3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 22512483;25810266;27717396;32198874;26854491;23114595;30466509 False 3 100;0;0 1.313 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730 31502654;27607025;9158140;34525201 False 3 100;0;0 1.313 True ENSG00000091409 ENSG00000091409 HGNC:6142 ITGA8 gene ITGA8 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, OMIM:191830;Renal hypodysplasia/aplasia 1, MONDO:0024519 24439109;9054500 False 3 100;0;0 1.313 True ENSG00000077943 ENSG00000077943 HGNC:6144 ITGB4 gene ITGB4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730 False 3 100;0;0 1.313 True ENSG00000132470 ENSG00000132470 HGNC:6158 JAG1 gene JAG1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, MIM#118450 False 3 100;0;0 1.313 True ENSG00000101384 ENSG00000101384 HGNC:6188 JAM3 gene JAM3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 23255084;21109224 False 3 100;0;0 1.313 True ENSG00000166086 ENSG00000166086 HGNC:15532 KANSL1 gene KANSL1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome (MIM#610443) 22544363 False 3 100;0;0 1.313 True ENSG00000120071 ENSG00000120071 HGNC:24565 KAT5 gene KAT5 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103 32822602 False 3 100;0;0 1.313 True ENSG00000172977 ENSG00000172977 HGNC:5275 KAT6A gene KAT6A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arboleda-Tham syndrome MIM#616268 30245513 False 3 100;0;0 1.313 True ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review Green;Genomics England PanelApp;Other Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome MIM#603736;Genitopatellar syndrome MIM#606170 22715153 False 3 50;0;50 1.313 True ENSG00000156650 ENSG00000156650 HGNC:17582 KATNB1 gene KATNB1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521379;26640080;25521378 False 3 100;0;0 1.313 True ENSG00000140854 ENSG00000140854 HGNC:6217 KBTBD2 gene KBTBD2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, KBTBD2-related 39313616 False 3 100;0;0 1.313 True ENSG00000170852 ENSG00000170852 HGNC:21751 KCNH1 gene KCNH1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 1, OMIM:135500 33811134 False 3 100;0;0 1.313 True ENSG00000143473 ENSG00000143473 HGNC:6250 KCNJ1 gene KCNJ1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 False 3 100;0;0 1.313 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ2 gene KCNJ2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 20301441 False 3 100;0;0 1.313 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ8 gene KCNJ8 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cantu syndrome 24700710;25275207;24176758 False 3 100;0;0 1.313 True Other - please provide details in the comments ENSG00000121361 ENSG00000121361 HGNC:6269 KCNK3 gene KCNK3 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related;developmental delay with sleep apnoea (DDSA) 36195757 False 3 100;0;0 1.313 True ENSG00000171303 ENSG00000171303 HGNC:6278 KCNQ1 gene KCNQ1 Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 1, 192500 27539165 False 3 100;0;0 1.313 True ENSG00000053918 ENSG00000053918 HGNC:6294 KDM1A gene KDM1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, psychomotor retardation, and distinctive facial features 616728 26656649;24838796;27094131 False 3 100;0;0 1.313 True ENSG00000004487 ENSG00000004487 HGNC:29079 KDM2B gene KDM2B Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO#0700092, KDM2B-related 36322151 False 3 100;0;0 1.313 True ENSG00000089094 ENSG00000089094 HGNC:13610 KDM5C gene KDM5C Expert Review Green;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) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534;MONDO:0010355 15586325;32279304 False 3 100;0;0 1.313 True ENSG00000126012 ENSG00000126012 HGNC:11114 KDM6A gene KDM6A Expert Review Green;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) Kabuki syndrome 2, MIM# 300867 False 3 100;0;0 1.313 True ENSG00000147050 ENSG00000147050 HGNC:12637 KDM6B gene KDM6B Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Stolerman neurodevelopmental syndrome, MIM# 618505" False 3 100;0;0 1.313 True ENSG00000132510 ENSG00000132510 HGNC:29012 KDR gene KDR Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot 34113005;30232381;28991257;30232381 False 3 100;0;0 1.313 True ENSG00000128052 ENSG00000128052 HGNC:6307 KIAA0556 gene KIAA0556 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26 - MIM#616784 26714646;27245168 False 3 100;0;0 1.313 True ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;Genomics England PanelApp;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Other;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23 616490;Short-rib thoracic dysplasia 14 with polydactyly 616546;Hydrolethalus 26096313;26166481 False 3 67;33;0 1.313 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XV, MONDO:0014932;Orofaciodigital syndrome XV, OMIM:617127;Joubert syndrome 28220259;29138412;26643951;31816441 False 3 100;0;0 1.313 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIAA0825 gene KIAA0825 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A10 - MIM#618498 33776623;32147526;30982135 False 3 100;0;0 1.313 True ENSG00000185261 ENSG00000185261 HGNC:28532 KIAA1109 gene KIAA1109 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome MIM#617822 28749478;30485398;29290337;30906834 False 3 100;0;0 1.313 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296;cerebral ventriculomegaly;limb contractures;spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 33205811;28934391;22048169;32909676 False 3 100;0;0 1.313 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF11 gene KIF11 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 1.313 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552;Microcephaly 20, primary, autosomal recessive, OMIM:617914;Meckel syndrome 12, OMIM:616258;Microcephaly 20, primary, autosomal recessive, MONDO:0054761 29343805;24128419;30388224;28892560 False 3 50;0;50 1.313 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, MIM# 614255 28970574;22258533;31488895;31512412 False 3 100;0;0 1.313 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, MIM# 609460 23427148;15883926 False 3 100;0;0 1.313 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF21B gene KIF21B Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;Global developmental delay;Intellectual disability;Abnormality of brain morphology;Microcephaly 32415109 False 3 100;0;0 1.313 True ENSG00000116852 ENSG00000116852 HGNC:29442 KIF22 gene KIF22 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546 25256152;22152677;22152678 False 3 100;0;0 1.313 True Other ENSG00000079616 ENSG00000079616 HGNC:6391 KIF26A gene KIF26A Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 36564622 False 3 100;0;0 1.313 True ENSG00000066735 ENSG00000066735 HGNC:20226 KIF2A gene KIF2A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex cortical dysplasia with other brain malformations 3, MONDO:0014170;Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411 23603762;21594994;27747449;27896282 False 3 100;0;0 1.313 True ENSG00000068796 ENSG00000068796 HGNC:6318 KIF4A gene KIF4A Expert list;Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 100 - OMIM# 300923;Hydrocephalus" 24812067;34346154;30679815 False 3 100;0;0 1.313 True ENSG00000090889 ENSG00000090889 HGNC:13339 KIF5B gene KIF5B Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kyphomelic dysplasia, no OMIM # PMID: 35342932 False 3 100;0;0 1.313 False ENSG00000170759 ENSG00000170759 HGNC:6324 KIF5C gene KIF5C Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282;Complex cortical dysplasia with other brain malformations 2, MONDO:0014116 23603762;23033978;32562872 False 3 100;0;0 1.313 True ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome 2, MIM# 614120;Acrocallosal syndrome 26174511;21552264 False 3 100;0;0 1.313 True ENSG00000166813 ENSG00000166813 HGNC:30497 KLF1 gene KLF1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type IV MIM#613673;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 21055716;33339573;32815883;32221653;32032242;31818881;24443441;25724378;28361594;34554218 False 3 100;0;0 1.313 True Other ENSG00000105610 ENSG00000105610 HGNC:6345 KLHL40 gene KLHL40 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 23746549;24960163;32352246;31908664;27528495 False 3 100;0;0 1.313 True ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, MIM# 615731 24268659;30986853;28939701;28826497 False 3 100;0;0 1.313 True ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal PERCHING syndrome, MONDO:0014890;PERCHING syndrome, OMIM:617055 27392078;29074562 False 3 100;0;0 1.313 True ENSG00000122550 ENSG00000122550 HGNC:15646 KMT2A gene KMT2A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome, MIM# 605130 False 3 100;0;0 1.313 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2C gene KMT2C Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 2, MIM#617768 29276005;22726846 False 3 100;0;0 1.313 True ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM# 147920;KMT2D-associated syndrome 30293990;27568880;15690368;31949313;33461977 False 3 100;0;0 1.313 True ENSG00000167548 ENSG00000167548 HGNC:7133 KNL1 gene KNL1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, OMIM:604321;Microcephaly 4, primary, autosomal recessive, MONDO:0011437 26626498;26621532;22983954;27149178;30304678;27784895 False 3 100;0;0 1.313 True ENSG00000137812 ENSG00000137812 HGNC:24054 KRAS gene KRAS Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3, MIM# 609942;Cardiofaciocutaneous syndrome 2, MIM# 615278 21797849;16474404;16474405;16773572;17056636 False 3 100;0;0 1.313 True ENSG00000133703 ENSG00000133703 HGNC:6407 KYNU gene KYNU Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661 28792876 False 3 100;0;0 1.313 True ENSG00000115919 ENSG00000115919 HGNC:6469 L1CAM gene L1CAM Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus due to aqueductal stenosis, MIM# 307000 30712878;28425981;31504653;9926316;27066571 False 3 50;50;0 1.313 True ENSG00000198910 ENSG00000198910 HGNC:6470 LAGE3 gene LAGE3 Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked - MIM#301006 31069511;28805828 False 3 100;0;0 1.313 True ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA1 gene LAMA1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, MIM# 615960 34423300 False 3 100;0;0 1.313 True ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 30055037 False 3 100;0;0 1.313 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMB1 gene LAMB1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077;Lissencephaly 5, OMIM:615191 False 3 100;0;0 1.313 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMC3 gene LAMC3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, MIM#614115 33639934;21572413;34354730 False 3 50;50;0 1.313 True ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 17436019 False 3 50;50;0 1.313 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARP7 gene LARP7 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Alazami syndrome, MIM# 615071;Microcephalic primordial dwarfism, Alazami type MONDO:0014031 22865833;21937992;30006060;33569879 False 3 100;0;0 1.313 True ENSG00000174720 ENSG00000174720 HGNC:24912 LARS2 gene LARS2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 32442335;26537577 False 3 100;0;0 1.313 True ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia, MIM#215140 29068549 False 3 100;0;0 1.313 True ENSG00000143815 ENSG00000143815 HGNC:6518 LDB1 gene LDB1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus MONDO:0016349 39680505 False 3 100;0;0 1.313 True ENSG00000198728 ENSG00000198728 HGNC:6532 LFNG gene LFNG Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 9690472;16385447;30531807;9690473 False 3 100;0;0 1.313 True ENSG00000106003 ENSG00000106003 HGNC:6560 LGI4 gene LGI4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 28318499;34288120 False 3 100;0;0 1.313 True ENSG00000153902 ENSG00000153902 HGNC:18712 LIFR gene LIFR Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559;CAKUT 28334964 False 3 100;0;0 1.313 True ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 Expert Review Green;Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM#606593 32534991;11779494;16088910;15333585;20133615 False 3 75;0;25 1.313 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIPA gene LIPA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Wolman disease, 278000;Fetal hydrops;Lysosomal Acid Lipase Deficiency 12666227;28374935;11487567 False 3 50;50;0 1.313 True ENSG00000107798 ENSG00000107798 HGNC:6617 LMBR1 gene LMBR1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laurin-Sandrow syndrome, MIM# 135750;Polydactyly, preaxial type II 174500;Triphalangeal thumb, type I, MIM# 174500;Syndactyly, type IV, MIM# 186200;Acheiropody, MIM# 200500;Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500;Hypoplastic or aplastic tibia with polydactyly, MIM# 188740 False 3 100;0;0 1.313 True ENSG00000105983 ENSG00000105983 HGNC:13243 LMNA gene LMNA Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Restrictive dermopathy, lethal, MIM# 275210;Mandibuloacral dysplasia, MIM# 248370 False 3 100;0;0 1.313 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB1 gene LMNB1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 26, primary, autosomal dominant - MIM#619179 32910914 False 3 100;0;0 1.313 True ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 27, primary, autosomal dominant - MIM#619180 33033404 False 3 100;0;0 1.313 True ENSG00000176619 ENSG00000176619 HGNC:6638 LMOD3 gene LMOD3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, MIM# 616165 29331079;25250574;30291184;28815944;30642739 False 3 100;0;0 1.313 True ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, MIM# 161200, MONDO:0008061 29089684 False 3 100;0;0 1.313 True ENSG00000136944 ENSG00000136944 HGNC:6654 LNPK gene LNPK Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true False 3 100;0;0 1.313 True ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, OMIM:600373;CODAS syndrome, MONDO:0010879 31636596;34547244;25574826;29408517 False 3 67;0;33 1.313 True ENSG00000196365 ENSG00000196365 HGNC:9479 LRIG2 gene LRIG2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2 (MIM#615112) 23313374;27855655;30885509 False 3 100;0;0 1.313 True ENSG00000198799 ENSG00000198799 HGNC:20889 LRP2 gene LRP2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM# 222448 False 3 100;0;0 1.313 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome (MIM#212780) 23636941;23664847;30041615;20381006 False 3 100;0;0 1.313 True ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome, MIM# 259770;Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 False 3 100;0;0 1.313 True ENSG00000162337 ENSG00000162337 HGNC:6697 LRRC56 gene LRRC56 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39, OMIM:618254;Ciliary dyskinesia, primary, 39, MONDO:0032637 30388400 False 3 100;0;0 1.313 True ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, MIM# 614935 23122589;23891469;32622824;29511670 False 3 100;0;0 1.313 True ENSG00000129295 ENSG00000129295 HGNC:16725 LTBP1 gene LTBP1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE - MIM#619451 33991472 False 3 100;0;0 1.313 True ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP3 gene LTBP3 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dental anomalies and short stature, MIM# 601216;Geleophysic dysplasia 3, MIM# 617809;Thoracic aneurysm 19344874;25899461;25669657;29625025;27068007;34150014 False 3 100;0;0 1.313 True ENSG00000168056 ENSG00000168056 HGNC:6716 LTBP4 gene LTBP4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC, MIM# 613177 22829427 False 3 100;0;0 1.313 True ENSG00000090006 ENSG00000090006 HGNC:6717 LZTFL1 gene LZTFL1 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, MIM# 615994 22510444;23692385;27312011;22072986 False 3 100;0;0 1.313 True ENSG00000163818 ENSG00000163818 HGNC:6741 LZTR1 gene LZTR1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10, MIM#616564;Noonan syndrome 2, MIM#605275;Fetal hydrops 25795793;29469822;30368668;30481304;24362817 False 3 100;0;0 1.313 True Other ENSG00000099949 ENSG00000099949 HGNC:6742 MAB21L1 gene MAB21L1 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 30487245 False 3 100;0;0 1.313 True ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 24906020;25719200;31037784;30375740;30073347;26116559 False 3 100;0;0 1.313 True ENSG00000181541 ENSG00000181541 HGNC:6758 MACF1 gene MACF1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 9 with complex brainstem malformation, MONDO:0032677;Lissencephaly 9 with complex brainstem malformation, OMIM:618325 30471716 False 3 100;0;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 ENSG00000127603 ENSG00000127603 HGNC:13664 MAF gene MAF Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ayme-Gripp syndrome (MIM#601088) 30160832;34643041 False 3 100;0;0 1.313 True ENSG00000178573 ENSG00000178573 HGNC:6776 MAGEL2 gene MAGEL2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, MIM# 615547 26365340;27195816;24076603;31397880;29599419;30302899 False 3 100;0;0 1.313 True ENSG00000254585 ENSG00000254585 HGNC:6814 MAMLD1 gene MAMLD1 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypospadias 2 (MIM#300758) 26815876;31555317;32690052 False 3 100;0;0 1.313 True ENSG00000013619 ENSG00000013619 HGNC:2568 MAN2C1 gene MAN2C1 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, MIM# 619775 35045343 False 3 100;0;0 1.313 True ENSG00000140400 ENSG00000140400 HGNC:6827 MAP1B gene MAP1B Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;Periventricular nodular heterotopia 9, MIM# 618918 31317654;33772511;30150678;30214071 False 3 100;0;0 1.313 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAP2K1 gene MAP2K1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 16439621;17551924;18042262;20301365 False 3 100;0;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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4, MIM# 615280 20358587;16439621;18042262 False 3 100;0;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 ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K1 gene MAP3K1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46XY sex reversal 6 (MIM#613762) 21129722;32986312 False 3 0;0;100 1.313 True ENSG00000095015 ENSG00000095015 HGNC:6848 MAP3K20 gene MAP3K20 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816;Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695;Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760;Split-foot malformation with mesoaxial polydactyly, OMIM:616890 26755636;27816943 False 3 100;0;0 1.313 True ENSG00000091436 ENSG00000091436 HGNC:17797 MAP3K7 gene MAP3K7 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiospondylocarpofacial syndrome, OMIM:157800;Frontometaphyseal dysplasia 2, MONDO:0014935;Frontometaphyseal dysplasia 2, OMIM:617137;Cardiospondylocarpofacial syndrome, MONDO:0008005 27426734;27426733 False 3 100;0;0 1.313 True ENSG00000135341 ENSG00000135341 HGNC:6859 MAP4K4 gene MAP4K4 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060, MAP4K4-related 37126546 False 3 100;0;0 1.313 True ENSG00000071054 ENSG00000071054 HGNC:6866 MAPK1 gene MAPK1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 13 - MIM#619087 32721402 False 3 100;0;0 1.313 True ENSG00000100030 ENSG00000100030 HGNC:6871 MAPK8IP3 gene MAPK8IP3 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities - #618443;cerebral atrophy;corpus callosum anomalies;polymicrogyria 30945334;30612693 False 3 100;0;0 1.313 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAPKAPK5 gene MAPKAPK5 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, MIM# 619869 33442026 False 3 100;0;0 1.313 True ENSG00000089022 ENSG00000089022 HGNC:6889 MAPRE2 gene MAPRE2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, MIM#616734 31903734;31502381;26637975 False 3 100;0;0 1.313 True ENSG00000166974 ENSG00000166974 HGNC:6891 MASP1 gene MASP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920;MONDO:0009770 26789649;21258343;21035106 False 3 100;0;0 1.313 True ENSG00000127241 ENSG00000127241 HGNC:6901 MAST1 gene MAST1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827;corpus callosum anomalies;cortical malformations;cerebellar hypoplasia 32818970;32198973;31721002;30449657 False 3 100;0;0 1.313 True ENSG00000105613 ENSG00000105613 HGNC:19034 MATN3 gene MATN3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728 31724101;32025536;11968079;14729835 False 3 100;0;0 1.313 True ENSG00000132031 ENSG00000132031 HGNC:6909 MAX gene MAX Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, MIM# 620712 38141607 False 3 100;0;0 1.313 True ENSG00000125952 ENSG00000125952 HGNC:6913 MBTPS1 gene MBTPS1 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia, no OMIM # PMID: 32857899;32420688;30046013 False 3 100;0;0 1.313 True ENSG00000140943 ENSG00000140943 HGNC:15456 MBTPS2 gene MBTPS2 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome MIM#308205;Osteogenesis imperfecta, type XIX, MIM#301014 27380894;19361614;21426410 False 3 100;0;0 1.313 True ENSG00000012174 ENSG00000012174 HGNC:15455 MCIDAS gene MCIDAS Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;Arachnoid cyst;Choroid plexus hyperplasia;Ciliary dyskinesia, primary, 42 - #618695 32802948;25048963;30237576 False 3 100;0;0 1.313 True ENSG00000234602 ENSG00000234602 HGNC:40050 MCOLN1 gene MCOLN1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 33963976 False 3 100;0;0 1.313 True ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM# 251200 33461977 False 3 100;0;0 1.313 True ENSG00000147316 ENSG00000147316 HGNC:6954 MDFIC gene MDFIC Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 12, MIM# 620014 35235341 False 3 100;0;0 1.313 True ENSG00000135272 ENSG00000135272 HGNC:28870 MECOM gene MECOM Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738 29146883;29519864;26581901 False 3 100;0;0 1.313 True ENSG00000085276 ENSG00000085276 HGNC:3498 MED12 gene MED12 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lujan-Fryns syndrome, MIM# 309520;Opitz-Kaveggia syndrome, MIM# 305450" 20301719 False 3 100;0;0 1.313 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED13L gene MED13L Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 33930262;29959045;32646507 False 3 50;50;0 1.313 True ENSG00000123066 ENSG00000123066 HGNC:22962 MED17 gene MED17 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 30345598;33756211 False 3 100;0;0 1.313 True ENSG00000042429 ENSG00000042429 HGNC:2375 MED25 gene MED25 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies;congenital heart defects;hypospadias, thin corpus callosum, cerebral ventricular dilatation;Basel-Vanagait-Smirin-Yosef syndrome - #616449;Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 25792360;32816121;32816121;32324310 False 3 100;0;0 1.313 True ENSG00000104973 ENSG00000104973 HGNC:28845 MED27 gene MED27 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 33443317 False 3 100;0;0 1.313 True ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443;MONDO:0013266 19876902;19471318;19592390;19592390;20513142;34055696;34022131 False 3 100;0;0 1.313 True ENSG00000081189 ENSG00000081189 HGNC:6996 MEGF10 gene MEGF10 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399) 22101682;22371254;30802937 False 3 50;50;0 1.313 True ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2, MIM #614976 3993675 False 3 100;0;0 1.313 True ENSG00000105429 ENSG00000105429 HGNC:3233 MEIS2 gene MEIS2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970;Cleft palate, cardiac defects, and mental retardation, OMIM:600987 30055086;27225850;25712757;24678003;30291340;33427397 False 3 100;0;0 1.313 True ENSG00000134138 ENSG00000134138 HGNC:7001 MEOX1 gene MEOX1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2, OMIM:214300;Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 24073994;23290072 False 3 100;0;0 1.313 True ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD Expert Review Green;Genomics England PanelApp;Other Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XX, OMIM:618644;Osteogenesis imperfecta, type 20, MONDO:0032846 31564437 False 3 100;0;0 1.313 True ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) 18485326 False 3 100;0;0 1.313 True ENSG00000188095 ENSG00000188095 HGNC:29659 MFSD2A gene MFSD2A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486 False 3 100;0;0 1.313 True ENSG00000168389 ENSG00000168389 HGNC:25897 MGP gene MGP Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Keutel syndrome, MIM #245150 False 3 50;0;50 1.313 True ENSG00000111341 ENSG00000111341 HGNC:7060 MID1 gene MID1 Expert list;Expert Review Green;Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz GBBB syndrome, type I (MIM#300000) 1103076;9354791 False 3 50;0;50 1.313 True ENSG00000101871 ENSG00000101871 HGNC:7095 MINPP1 gene MINPP1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 16 - MIM#619527 33257696;33168985 False 3 100;0;0 1.313 True ENSG00000107789 ENSG00000107789 HGNC:7102 MITF gene MITF Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal COMMAD syndrome, MIM# 617306 27889061;32541011 False 3 100;0;0 1.313 True ENSG00000187098 ENSG00000187098 HGNC:7105 MKKS gene MKKS Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal McKusick-Kaufman syndrome, MIM# 236700;Bardet-Biedl syndrome 6, MIM# 605231 10973251;10802661 False 3 100;0;0 1.313 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28, MIM# 617121;MONDO:0014928;Meckel syndrome 1, MIM# 249000;MONDO:0009571 17377820;24886560;19776033;33193692;27570071;27377014 False 3 100;0;0 1.313 True ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) 11254442;18757878;16652334 False 3 100;0;0 1.313 True ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM# 248360 12955715 False 3 100;0;0 1.313 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMACHC gene MMACHC Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400) 20631720;16311595 False 3 100;0;0 1.313 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMP21 gene MMP21 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal, MIM# 616749 26429889;26437028;26437029 False 3 100;0;0 1.313 True ENSG00000154485 ENSG00000154485 HGNC:14357 MN1 gene MN1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CEBALID syndrome, OMIM:618774;CEBALID syndrome, MONDO:0032908 31834374;31839203;15870292 False 3 100;0;0 1.313 True Other ENSG00000169184 ENSG00000169184 HGNC:7180 MNS1 gene MNS1 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy;male infertility;Heterotaxy, visceral, 9, autosomal, with male infertility 618948 PMID: 31534215;30148830 False 3 100;0;0 1.313 True ENSG00000138587 ENSG00000138587 HGNC:29636 MNX1 gene MNX1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome, MIM# 176450 False 3 50;0;50 1.313 True ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, MIM# 252150 9921896;12754701;21031595 False 3 100;0;0 1.313 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B (MIM#252160) 10053004;31848698;16021469;30900395 False 3 100;0;0 1.313 True ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, OMIM:606056;MOGS-CDG, MONDO:0011629 31925597;30587846;33058492 False 3 100;0;0 1.313 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 11733564;11733556;31741824;29721919 False 3 100;0;0 1.313 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPDZ gene MPDZ Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219 28556411;23240096;30518636;29499638 False 3 100;0;0 1.313 True ENSG00000107186 ENSG00000107186 HGNC:7208 MPLKIP gene MPLKIP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, MIM# 234050;MONDO:0021013 15645389;16977596 False 3 100;0;0 1.313 True ENSG00000168303 ENSG00000168303 HGNC:16002 MPZ gene MPZ Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomyelinating neuropathy, congenital, 2, MIM# 618184 False 3 50;0;50 1.313 True ENSG00000158887 ENSG00000158887 HGNC:7225 MRAS gene MRAS Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, MONDO:0032786;Noonan syndrome 11, OMIM:618499 31108500;28289718;31173466 False 3 100;0;0 1.313 True ENSG00000158186 ENSG00000158186 HGNC:7227 MRPS22 gene MRPS22 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5 (MIM#611719) 28425981;21189481;17873122;25663021 False 3 100;0;0 1.313 True ENSG00000175110 ENSG00000175110 HGNC:14508 MSL3 gene MSL3 Expert Review Green;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) Basilicata-Akhtar syndrome, MIM# 301032 30224647 False 3 100;0;0 1.313 True ENSG00000005302 ENSG00000005302 HGNC:7370 MSMO1 gene MSMO1 Expert list;Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793;Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 27604308;21285510;24144731;33161406;28673550;33161406 False 3 100;0;0 1.313 True ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675;Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 28544275;29339779;31130378;31604776;28554942;31463572;30684668 False 3 100;0;0 1.313 True ENSG00000125459 ENSG00000125459 HGNC:29678 MSX1 gene MSX1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial cleft 5 (MIM#608874) 10742093;12807959 False 3 100;0;0 1.313 True ENSG00000163132 ENSG00000163132 HGNC:7391 MSX2 gene MSX2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 2 (MIM#604757);Parietal foramina 1 (MIM#168500);Parietal foramina with cleidocranial dysplasia (MIM#168550) 23949913;27884935;23918290;2359311;22948472;19533795;10742103;14571277 False 3 100;0;0 1.313 True ENSG00000120149 ENSG00000120149 HGNC:7392 MTM1 gene MTM1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked, MIM# 310400 False 3 50;0;50 1.313 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTO1 gene MTO1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, MIM# 61702 26061759;29331171;23929671 False 3 100;0;0 1.313 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Kingsmore syndrome, MIM# 616638 33077954 False 3 50;50;0 1.313 True Other ENSG00000198793 ENSG00000198793 HGNC:3942 MTX2 gene MTX2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome - MIM#619127 32917887 False 3 100;0;0 1.313 True ENSG00000128654 ENSG00000128654 HGNC:7506 MUSK gene MUSK Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, MIM# 208150;MONDO:0100101 25537362;25612909;8653786;31750350 False 3 100;0;0 1.313 True ENSG00000030304 ENSG00000030304 HGNC:7525 MVK gene MVK Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria-#610377;Hyper-IgD syndrome - #260920 27012807;16722536 False 3 100;0;0 1.313 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYBBP1A gene MYBBP1A Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrops fetalis, MONDO:0015193, MYBBP1A-related 39191491;28425981 False 3 100;0;0 1.313 True ENSG00000132382 ENSG00000132382 HGNC:7546 MYBPC1 gene MYBPC1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B 614335;Lethal congenital contracture syndrome 4, MIM# 614915 20045868;22610851;23873045;26661508;31264822 False 3 100;0;0 1.313 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYBPC3 gene MYBPC3 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neonatal hypertrophic cardiomyopathy;Cardiomyopathy, hypertrophic, 4 - MIM#115197 16679492;17937428;19858127 False 3 100;0;0 1.313 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYCN gene MYCN Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 1 (MIM#164280);Megalencephaly-polydactyly syndrome, MIM# 620748 18470948;37710961 False 3 100;0;0 1.313 True ENSG00000134323 ENSG00000134323 HGNC:7559 MYH10 gene MYH10 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) 30712878;24825879;24901346;25356899;22495309;25003005 False 3 100;0;0 1.313 True ENSG00000133026 ENSG00000133026 HGNC:7568 MYH11 gene MYH11 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351) 29575632;25407000;31427716;31944481;30071989;16444274;17666408;27081537 False 3 100;0;0 1.313 True Other ENSG00000133392 ENSG00000133392 HGNC:7569 MYH2 gene MYH2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, OMIM:605637;Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 20418530;15548556;24193343;11114175;23489661;32578970;29934118;28729039;27490141;27177998;17434305 False 3 100;0;0 1.313 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469 25957469;26544689;21531865;18695058 False 3 50;0;50 1.313 True ENSG00000109063 ENSG00000109063 HGNC:7573 MYH6 gene MYH6 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 3 (MIM#614089) 20656787;29969989;15735645 False 3 100;0;0 1.313 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ebstein anomaly;Laing distal myopathy, MIM# 160500 22859017;26337809;25547560;21127202;27519903;30623132;30924982 False 3 67;0;33 1.313 True Other ENSG00000092054 ENSG00000092054 HGNC:7577 MYH8 gene MYH8 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trismus-pseudocamptodactyly syndrome (MIM#158300) 20949528;17041932;15282353 False 3 100;0;0 1.313 True ENSG00000133020 ENSG00000133020 HGNC:7578 MYL9 gene MYL9 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 32621347;33264186;29453416;33031641 False 3 100;0;0 1.313 True ENSG00000101335 ENSG00000101335 HGNC:15754 MYMK gene MYMK Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, MONDO:0009700;Carey-Fineman-Ziter syndrome, OMIM:254940 28681861 False 3 50;50;0 1.313 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYO18B gene MYO18B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689;Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 25748484;27858739;32637634;32184166;27879346;33179433 False 3 100;0;0 1.313 True ENSG00000133454 ENSG00000133454 HGNC:18150 MYOCD gene MYOCD Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 100;0;0 1.313 True ENSG00000141052 ENSG00000141052 HGNC:16067 MYOD1 gene MYOD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 30403323;26733463;31260566 False 3 100;0;0 1.313 True ENSG00000129152 ENSG00000129152 HGNC:7611 MYRF gene MYRF Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac-urogenital syndrome, MIM# 618280 30985895;30070761;31069960;29446546;30532227 False 3 100;0;0 1.313 True ENSG00000124920 ENSG00000124920 HGNC:1181 MYT1 gene MYT1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemifacial microsomia, MONDO:0015398 28612832;27358179;32871052 False 3 50;0;50 1.313 True Other ENSG00000196132 ENSG00000196132 HGNC:7622 NAA10 gene NAA10 Expert Review Green;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) Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855 30842225;24431331;34075687 False 3 100;0;0 1.313 True ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787 31127942;33557580 False 3 100;0;0 1.313 True ENSG00000164134 ENSG00000164134 HGNC:30782 NACC1 gene NACC1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, MIM# 617393) 28132692 False 3 100;0;0 1.313 True ENSG00000160877 ENSG00000160877 HGNC:20967 NADSYN1 gene NADSYN1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077;Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 31883644 False 3 100;0;0 1.313 True ENSG00000172890 ENSG00000172890 HGNC:29832 NALCN gene NALCN Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266);Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) 25683120;23749988;24075186 False 3 100;0;0 1.313 True ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442) 27213289 False 3 100;0;0 1.313 True ENSG00000095380 ENSG00000095380 HGNC:19237 NARS gene NARS Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 32738225;32788587 False 3 100;0;0 1.313 True ENSG00000134440 ENSG00000134440 HGNC:7643 NBAS gene NBAS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800);bone fragility;developmental delay;immunodeficiency;autism 20577004;27789416;29955634;26073778 False 3 100;0;0 1.313 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260 7545870;2421804;8914736;3802554 False 3 100;0;0 1.313 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPD2 gene NCAPD2 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 21, primary, autosomal recessive;OMIM #617983 31056748;27737959;28097321 False 3 100;0;0 1.313 True ENSG00000010292 ENSG00000010292 HGNC:24305 NDE1 gene NDE1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), MIM# 614019;MONDO:0013527;Microhydranencephaly, MIM# 605013;MONDO:0011504 21529752;21529751;30637988;15473967 False 3 100;0;0 1.313 True ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, MIM# 310600 30125416 False 3 100;0;0 1.313 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFAF5 gene NDUFAF5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 30266093;18940309;21620786;19542079 False 3 100;0;0 1.313 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFB11 gene NDUFB11 Expert Review Green;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) Mitochondrial complex I deficiency, nuclear type 30 MIM#301021;Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952) 30423443;25772934;28050600 False 3 100;0;0 1.313 True ENSG00000147123 ENSG00000147123 HGNC:20372 NEB gene NEB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 6, MIM# 619334 10051637;22367672;26578207;33376055 False 3 100;0;0 1.313 True ENSG00000183091 ENSG00000183091 HGNC:7720 NECTIN1 gene NECTIN1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofacial cleft 7, OMIM:225060;Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060;Zlotogora-Ogur syndrome 25913853;10932188 False 3 100;0;0 1.313 True ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573) 24577405;20691405;25529316 False 3 100;0;0 1.313 True ENSG00000143217 ENSG00000143217 HGNC:19688 NEDD4L gene NEDD4L Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 7, MONDO:0014966;Periventricular nodular heterotopia 7, OMIM:617201 27694961;28515470;30393983 False 3 100;0;0 1.313 True ENSG00000049759 ENSG00000049759 HGNC:7728 NEK1 gene NEK1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520;Orofaciodigital syndrome II , MIM# 252100 21211617;22499340;25492405;28123176;27530628 False 3 100;0;0 1.313 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174;Renal-hepatic-pancreatic dysplasia 2, OMIM:615415;Nephronophthisis 9, OMIM:613824;Nephronophthisis 9, MONDO:0013444 26697755;18199800;26967905;26862157;23418306 False 3 100;0;0 1.313 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, type II (MIM#256550) 11063730;11829139;14695530 False 3 100;0;0 1.313 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEXN gene NEXN Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lethal fetal cardiomyopathy;Hydrops fetalis;Cardiomyopathy, dilated 1CC - MIM#613122 33947203;33949776;35166435;32058062 False 3 100;0;0 1.313 True ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, MIM# 162200;Neurofibromatosis-Noonan syndrome, MIM# 601321 False 3 100;0;0 1.313 True ENSG00000196712 ENSG00000196712 HGNC:7765 NFIA gene NFIA Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects - MIM#613735 35018717;33973697;32926563 False 3 100;0;0 1.313 True ENSG00000162599 ENSG00000162599 HGNC:7784 NFIB gene NFIB Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development - MIM#618286 30388402;33130023;32902921 False 3 100;0;0 1.313 True ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 2 (MIM#614753);Marshall-Smith syndrome, MIM# 602535 33034087;29897170;30548146;25118028 False 3 100;0;0 1.313 True ENSG00000008441 ENSG00000008441 HGNC:7788 NHEJ1 gene NHEJ1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;Cernunnos-XLF deficiency MONDO:0012650 30898087;30666249;28741180;25288157;24511403;21721379;21535335 False 3 67;33;0 1.313 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHS gene NHS Expert Review Green;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) Nance-Horan syndrome, MIM# 302350 31755796 False 3 100;0;0 1.313 True ENSG00000188158 ENSG00000188158 HGNC:7820 NID1 gene NID1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dandy-Walker malformation and occipital cephalocele;Hydrocephalus with or without seizures 23674478;25558065;12480912;30773799 False 3 100;0;0 1.313 True ENSG00000116962 ENSG00000116962 HGNC:7821 NIPBL gene NIPBL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1, MIM# 122470 False 3 100;0;0 1.313 True ENSG00000164190 ENSG00000164190 HGNC:28862 NKX2-5 gene NKX2-5 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Atrial septal defect 7, with or without AV conduction defects, MIM# 108900;Hypoplastic left heart syndrome 2, MIM# 614435;Tetralogy of Fallot, MIM# 187500;Ventricular septal defect 3, MIM# 614432;Hypothyroidism, congenital nongoitrous, 5, MIM# 225250" 25742962;26805889 False 3 100;0;0 1.313 True ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-6 gene NKX2-6 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Conotruncal heart malformations - MIM#217095;Persistent truncus arteriosus - MIM#217095 24421281;15649947;32198970;25380965;25319568 False 3 100;0;0 1.313 True ENSG00000180053 ENSG00000180053 HGNC:32940 NKX3-2 gene NKX3-2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330) 20004766;29704686 False 3 100;0;0 1.313 True ENSG00000109705 ENSG00000109705 HGNC:951 NME8 gene NME8 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CINCA syndrome, OMIM # 607115 PubMed: 12032915;12483741;12928894 False 3 50;0;50 1.313 True ENSG00000086288 ENSG00000086288 HGNC:16473 NONO gene NONO Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 34, MIM# 300967;Ventricular septal defect (VSD);Pulmonary stenosis;Ebstein s anomaly;Left ventricular non-compaction cardiomyopathy (LVNC) 32397791;26571461;27329731;27550220 False 3 100;0;0 1.313 True ENSG00000147140 ENSG00000147140 HGNC:7871 NOTCH1 gene NOTCH1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 5 (MIM#616028) 25963545;25132448 False 3 100;0;0 1.313 True ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500) 16773578;21378985;21378989 False 3 100;0;0 1.313 True ENSG00000134250 ENSG00000134250 HGNC:7882 NOVA2 gene NOVA2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859" 32197073 False 3 100;0;0 1.313 True Other ENSG00000104967 ENSG00000104967 HGNC:7887 NPC1 gene NPC1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1/ type D (MIM#257220) 12408188;9211849 False 3 100;0;0 1.313 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPHP1 gene NPHP1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4, MIM# 609583 15138899;32139166;28347285 False 3 100;0;0 1.313 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, MIM# 267010;Nephronophthisis 3, MIM# 604387;Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 18371931 False 3 100;0;0 1.313 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 12244321;12205563;34013113;22550138 False 3 50;50;0 1.313 True ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 (MIM#256300) 10577936;17413422 False 3 100;0;0 1.313 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPNT gene NPNT Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal agenesis, MONDO:0018470, NPNT-related 35246978;34049960;17537792 False 3 100;0;0 1.313 True ENSG00000168743 ENSG00000168743 HGNC:27405 NPR2 gene NPR2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Acromesomelic dysplasia 1, Maroteaux type (MIM#602875);Epiphyseal chondrodysplasia, Miura type (MIM#615923);Short stature with nonspecific skeletal abnormalities (MIM#616255) 15146390;31990356;30602027;24001744;24057292 False 3 100;0;0 1.313 True Other ENSG00000159899 ENSG00000159899 HGNC:7944 NPRL2 gene NPRL2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 2 - MIM#617116 29281825;27173016;31625153;33461085;22268191 False 3 100;0;0 1.313 True ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 3- MIM#617118 27173016;26285051;33461085 False 3 100;0;0 1.313 True ENSG00000103148 ENSG00000103148 HGNC:14124 NR2F2 gene NR2F2 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, multiple types, 4, MIM# 615779 29570242;29966037;27363585;29478779 False 3 50;50;0 1.313 True ENSG00000185551 ENSG00000185551 HGNC:7976 NR5A1 gene NR5A1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46, XX sex reversal 4 (MIM#617480);46XY sex reversal 3 (MIM#612965) 31513305 False 3 100;0;0 1.313 True ENSG00000136931 ENSG00000136931 HGNC:7983 NRAS gene NRAS Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6, MIM# 613224 19966803;26467218;28594414 False 3 100;0;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 ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1, MIM# 117550 29966037 False 3 100;0;0 1.313 True ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rauch-Steindl syndrome, MIM# 619695 30345613;31171569 False 3 100;0;0 1.313 True ENSG00000109685 ENSG00000109685 HGNC:12766 NSDHL gene NSDHL Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome , MIM#300831 19377476;19842190;21129721;15689440;25900314 False 3 67;33;0 1.313 True ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, NSRP1-related;Epilepsy;Cerebral palsy;microcephaly;Intellectual disability 34385670 False 3 100;0;0 1.313 True ENSG00000126653 ENSG00000126653 HGNC:25305 NUBPL gene NUBPL Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242) 29982452 False 3 100;0;0 1.313 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUDT2 gene NUDT2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 PMID: 38141063 False 3 100;0;0 1.313 True ENSG00000164978 ENSG00000164978 HGNC:8049 NUP107 gene NUP107 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 7, MIM# 618348 28280135;28117080;30179222;25558065 False 3 100;0;0 1.313 True ENSG00000111581 ENSG00000111581 HGNC:29914 NUP188 gene NUP188 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804;microcephaly;ID;cataract;structural brain abnormalities 32021605;28726809;32275884 False 3 100;0;0 1.313 True ENSG00000095319 ENSG00000095319 HGNC:17859 NUP88 gene NUP88 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 4, MONDO:0100104;Fetal akinesia deformation sequence 4, OMIM:618393 30543681 False 3 100;0;0 1.313 True ENSG00000108559 ENSG00000108559 HGNC:8067 NXN gene NXN Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2, OMIM:618529;Robinow syndrome, autosomal recessive 2, MONDO:0032800 29276006;32954672;33048444 False 3 100;0;0 1.313 True ENSG00000167693 ENSG00000167693 HGNC:18008 OBSL1 gene OBSL1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2 (MIM#612921) 21737058;19481195;23018678;19877176 False 3 100;0;0 1.313 True ENSG00000124006 ENSG00000124006 HGNC:29092 OCLN gene OCLN Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 (MIM#251290) 20727516;32240828;29192239;28386946 False 3 100;0;0 1.313 True ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555 33517444 False 3 100;0;0 1.313 True ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;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) Orofaciodigital syndrome I, MIM# 311200;Joubert syndrome 10, MIM# 300804 False 3 100;0;0 1.313 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPHN1 gene OPHN1 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486) 20528889;9582072;12807966;16221952 False 3 100;0;0 1.313 True ENSG00000079482 ENSG00000079482 HGNC:8148 ORAI1 gene ORAI1 Expert list;Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, tubular aggregate, 2 - #615883 31448844 False 3 100;0;0 1.313 True ENSG00000182500 ENSG00000276045 HGNC:25896 ORC1 gene ORC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690 False 3 100;0;0 1.313 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, MIM# 613800;MONDO:0013428 False 3 50;0;50 1.313 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, MIM# 613803 False 3 50;0;50 1.313 True ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, OMIM:617729;Galloway-Mowat syndrome 3, MONDO:0033007 28805828;28272532 False 3 100;0;0 1.313 True ENSG00000092094 ENSG00000092094 HGNC:18028 OSTM1 gene OSTM1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 (MIM#259720) 12627228;15108279;16813530;23772242;32048120 False 3 100;0;0 1.313 True ENSG00000081087 ENSG00000081087 HGNC:21652 OTUD5 gene OTUD5 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 33523931;33131077 False 3 50;0;50 1.313 True ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD6B gene OTUD6B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 28343629;32924626;31147255 False 3 100;0;0 1.313 True ENSG00000155100 ENSG00000155100 HGNC:24281 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5, MIM# 610125 24859618 False 3 100;0;0 1.313 True ENSG00000165588 ENSG00000165588 HGNC:8522 P3H1 gene P3H1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type VIII 610915" 27864101;33737016;17277775;19088120 False 3 100;0;0 1.313 True ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole-Carpenter syndrome 1, OMIM:112240;Cole-Carpenter syndrome 1, MONDO:0007204 30063094;29263160;25683117;29384951 False 3 100;0;0 1.313 True ENSG00000185624 ENSG00000185624 HGNC:8548 PACS1 gene PACS1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome (MIM# 615009) 30712880;26842493;23159249;32672908 False 3 100;0;0 1.313 True ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 66 - MIM#618067 34894068;34859793 False 3 100;0;0 1.313 True ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 11754098;18285425 False 3 100;0;0 1.313 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAK3 gene PAK3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 30/47, MIM# 300558;Agenesis of the corpus callosum 24556213;9731525;10946356;12884430;17853471;18523455;32050918;32005903;31943058;31843706;31678216 False 3 100;0;0 1.313 True ENSG00000077264 ENSG00000077264 HGNC:8592 PALB2 gene PALB2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 False 3 100;0;0 1.313 True ENSG00000083093 ENSG00000083093 HGNC:26144 PAM16 gene PAM16 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320" PubMed: 24786642, 27354339 False 3 100;0;0 1.313 True ENSG00000217930 ENSG00000217930 HGNC:29679 PAN2 gene PAN2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254 PMID:35304602;29620724 False 3 100;0;0 1.313 True ENSG00000135473 ENSG00000135473 HGNC:20074 PAPSS2 gene PAPSS2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 22791835;25594860;31461705;23633440;9771708;19474428 False 3 50;0;50 1.313 True ENSG00000198682 ENSG00000198682 HGNC:8604 PARN gene PARN Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 25893599;26342108;25848748 False 3 100;0;0 1.313 True ENSG00000140694 ENSG00000140694 HGNC:8609 PARP6 gene PARP6 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 3 100;0;0 1.313 True ENSG00000137817 ENSG00000137817 HGNC:26921 PAX2 gene PAX2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM# 120330;Renal coloboma syndrome, MONDO:0007352 21654726;24676634;31060108;32203253 False 3 50;50;0 1.313 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial-deafness-hand syndrome, MIM#122880;Waardenburg syndrome, type 1, MIM#193500;Waardenburg syndrome, type 3, MIM#148820 False 3 100;0;0 1.313 True ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia;Coloboma, ocular, MIM# 120200 31700164;30986449;29930474;22171686;12731001 False 3 50;50;0 1.313 True ENSG00000007372 ENSG00000007372 HGNC:8620 PBX1 gene PBX1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641;Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 28566479;29036646 False 3 100;0;0 1.313 True ENSG00000185630 ENSG00000185630 HGNC:8632 PCDH12 gene PCDH12 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 27164683;30178464 False 3 100;0;0 1.313 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCGF2 gene PCGF2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Turnpenny-Fry syndrome, MIM# 618371 30526864;30343942 False 3 100;0;0 1.313 True ENSG00000056661 ENSG00000277258 HGNC:12929 PCNT gene PCNT Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872 18174396;12210304;30922925;33460028;32557621;32267100 False 3 100;0;0 1.313 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDCD10 gene PDCD10 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations 3 MIM#603285 False 3 100;0;0 1.313 True ENSG00000114209 ENSG00000114209 HGNC:8761 PDE12 gene PDE12 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, PDE12-related 39567835 False 3 100;0;0 1.313 True ENSG00000174840 ENSG00000174840 HGNC:25386 PDE3A gene PDE3A Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome - #112410 25961942 False 3 100;0;0 1.313 True ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance, MIM# 614613 False 3 100;0;0 1.313 True ENSG00000113448 ENSG00000113448 HGNC:8783 PDE6D gene PDE6D Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22 - MIM#615665 30423442;24166846 False 3 100;0;0 1.313 True ENSG00000156973 ENSG00000156973 HGNC:8788 PDGFRB gene PDGFRB Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature aging syndrome, Penttinen type, MIM# 601812 False 3 100;0;0 1.313 True ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 26865159;33461977 False 3 100;0;0 1.313 True ENSG00000131828 ENSG00000131828 HGNC:8806 PET100 gene PET100 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 24462369;25293719;31406627 False 3 100;0;0 1.313 True ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100) 21031596 False 3 100;0;0 1.313 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870 21031596 False 3 50;50;0 1.313 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, MIM# 614920 22581968;31724321 False 3 50;0;50 1.313 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), MIM# 614859 21031596 False 3 50;50;0 1.313 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883 21031596;19449432 False 3 50;50;0 1.313 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 21031596;18285423;15146459;30224891;26627464 False 3 50;50;0 1.313 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876 21031596 False 3 50;50;0 1.313 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886 21031596 False 3 50;50;0 1.313 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866 21031596 False 3 50;50;0 1.313 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872 21031596 False 3 50;50;0 1.313 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 21031596 False 3 50;50;0 1.313 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 21031596 False 3 50;50;0 1.313 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) 21031596;9877282;26700162 False 3 100;0;0 1.313 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, OMIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100 11781871;12325024 False 3 100;0;0 1.313 True ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP1 gene PGAP1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 24482476;24784135;25823418;25804403;26050939 False 3 100;0;0 1.313 True ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 1.313 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 24439110;29620724;30345601;30217754 False 3 100;0;0 1.313 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921 24499211;33342467 False 3 100;0;0 1.313 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHEX gene PHEX Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant - MIM#307800 29791829;16055933;19219621;9106524 False 3 100;0;0 1.313 True ENSG00000102174 ENSG00000102174 HGNC:8918 PHF21A gene PHF21A Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725 31649809;30487643;22770980 False 3 100;0;0 1.313 True ENSG00000135365 ENSG00000135365 HGNC:24156 PHF5A gene PHF5A Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), PHF5A-related 37422718 False 3 100;0;0 1.313 True ENSG00000100410 ENSG00000100410 HGNC:18000 PHF8 gene PHF8 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263 17661819;17594395;16199551 False 3 100;0;0 1.313 True ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1, MIM# 256520 11895570;11494295 False 3 100;0;0 1.313 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHOX2B gene PHOX2B Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880 14608649;15657873;15121777;26063465 False 3 100;0;0 1.313 True ENSG00000109132 ENSG00000109132 HGNC:9143 PI4KA gene PI4KA Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 34415310 False 3 100;0;0 1.313 True ENSG00000241973 ENSG00000241973 HGNC:8983 PIBF1 gene PIBF1 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, MONDO:0033311;Joubert syndrome 33, OMIM:617767 26167768;30858804;29695797;33004012 False 3 100;0;0 1.313 True ENSG00000083535 ENSG00000083535 HGNC:23352 PIDD1 gene PIDD1 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827;Pachygyria;Lissencephaly;Abnormality of the corpus callosum 28397838;29302074;33414379;34163010 False 3 50;50;0 1.313 True ENSG00000177595 ENSG00000177595 HGNC:16491 PIEZO1 gene PIEZO1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380;Lymphatic malformation 6, OMIM #616843 23695678;30712880;26333996;28425981;23479567 False 3 50;0;50 1.313 True ENSG00000103335 ENSG00000103335 HGNC:28993 PIEZO2 gene PIEZO2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marden-Walker syndrome, MIM# 248700;Arthrogryposis, distal, type 3, MIM# 114300 24726473;30941898 False 3 100;0;0 1.313 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 24706016;24259184;29159939 False 3 100;0;0 1.313 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGH gene PIGH Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 29573052;33156547;29603516 False 3 50;50;0 1.313 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGL gene PIGL Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.313 True ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563;Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080 27038415;24852103 False 3 100;0;0 1.313 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 22683086;31698102;28900819;28545593;28337824 False 3 100;0;0 1.313 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGT gene PIGT Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 1.313 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 20802478;22315194;28817240;24129430 False 3 100;0;0 1.313 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIH1D3 gene PIH1D3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991;Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517 28041644;24421334;28176794 False 3 100;0;0 1.313 True ENSG00000080572 ENSG00000080572 HGNC:28570 PIK3C2A gene PIK3C2A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Oculocerebrodental syndrome, MONDO:0034145;Oculoskeletodental syndrome, OMIM:618440 31034465 False 3 100;0;0 1.313 True ENSG00000011405 ENSG00000011405 HGNC:8971 PIK3CA gene PIK3CA Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 30712880;28425981;23754335 False 3 100;0;0 1.313 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal SHORT syndrome, MIM#269880 False 3 100;0;0 1.313 True ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 28425981;22729224;23745724;33604570 False 3 100;0;0 1.313 True ENSG00000105647 ENSG00000105647 HGNC:8980 PIP5K1C gene PIP5K1C Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3 - #611369 17701898;38491417 False 3 50;50;0 1.313 True ENSG00000186111 ENSG00000186111 HGNC:8996 PITX1 gene PITX1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520;Clubfoot, MONDO:0007342;Liebenberg syndrome, OMIM:186550;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800 21775501;22258522;18950742 False 3 100;0;0 1.313 True ENSG00000069011 ENSG00000069011 HGNC:9004 PITX2 gene PITX2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 4, OMIM #137600;Axenfeld-Rieger syndrome, type 1, OMIM #180500 12015277 False 3 100;0;0 1.313 True ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250;Cataract 11, multiple types, MIM# 610623;Microphthalmia 29405783 False 3 100;0;0 1.313 True ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1 gene PKD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 1, OMIM #173900 23624871;20558538;30631912;26139440 False 3 100;0;0 1.313 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD1L1 gene PKD1L1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal (MIM#617205) 31026592;27616478;30664273;20080492 False 3 50;50;0 1.313 True ENSG00000158683 ENSG00000158683 HGNC:18053 PKD2 gene PKD2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 2, OMIM #613095 26139440 False 3 100;0;0 1.313 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 False 3 100;0;0 1.313 True ENSG00000170927 ENSG00000170927 HGNC:9016 PKLR gene PKLR Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency 266200 29549173;8285758;10923218 False 3 100;0;0 1.313 True ENSG00000143627 ENSG00000143627 HGNC:9020 PKP2 gene PKP2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021, PKP2-related;dilated cardiomyopathy;hypoplastic left heart syndrome;hydrops fetalis;ventricular septal defect;left ventricular non-compaction PMID: 30562116;PMID: 35059364;PMID: 38050058 False 3 100;0;0 1.313 True ENSG00000057294 ENSG00000057294 HGNC:9024 PLAA gene PLAA Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 28007986;28413018;31322726 False 3 100;0;0 1.313 True ENSG00000137055 ENSG00000137055 HGNC:9043 PLAG1 gene PLAG1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 4, OMIM:618907;Silver-russell syndrome 4, MONDO:0030118 28796236;29913240;33291420;32546215 False 3 100;0;0 1.313 True ENSG00000181690 ENSG00000181690 HGNC:9045 PLCB4 gene PLCB4 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 2A, MIM# 614669;Auriculocondylar syndrome 2B, MIM# 620458 22560091;23315542;33131036;32201334;28328130;27007857;23913798 False 3 100;0;0 1.313 True ENSG00000101333 ENSG00000101333 HGNC:9059 PLD1 gene PLD1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cardiac valvular defect, developmental, OMIM:212093 27799408;33645542 False 3 100;0;0 1.313 True ENSG00000075651 ENSG00000075651 HGNC:9067 PLEC gene PLEC Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138;Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670;Epidermolysis bullosa simplex 5A, Ogna type MIM#131950;Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)" 22144912;31509265;21263134;20624679;20624679;21109228;28824526 False 3 100;0;0 1.313 True ENSG00000178209 ENSG00000178209 HGNC:9069 PLG gene PLG Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, MIM# 217090;Hydrocephalus 9242524;10233898;21174000;21174000 False 3 100;0;0 1.313 True ENSG00000122194 ENSG00000122194 HGNC:9071 PLK4 gene PLK4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171 25344692;25320347;27650967;33756487 False 3 100;0;0 1.313 True ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD1 gene PLOD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400 15666309;20301635;28757364 False 3 100;0;0 1.313 True ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2 , OMIM #609220 22689593;12881513;33664768;33778323;29178448 False 3 100;0;0 1.313 True ENSG00000152952 ENSG00000152952 HGNC:9082 PLOD3 gene PLOD3 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency - MIM#612394;Stickler-syndrome like 30237576;18834968 False 3 100;0;0 1.313 True ENSG00000106397 ENSG00000106397 HGNC:9083 PLPBP gene PLPBP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 27912044;31741821;30668673 False 3 100;0;0 1.313 True ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 Expert list;Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bone mineral density QTL18, osteoporosis - MIM#300910;Diaphragmatic hernia 5, X-linked, MIM# 306950 32655496;25209159;29736964;29884797;28777485;24088043;37751738 False 3 67;33;0 1.313 True ENSG00000102024 ENSG00000102024 HGNC:9091 PLXND1 gene PLXND1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital heart defects, multiple types, 9, MIM# 620294 35396997 False 3 100;0;0 1.313 True ENSG00000004399 ENSG00000004399 HGNC:9107 PMM2 gene PMM2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia , MIM#212065 21541725 False 3 100;0;0 1.313 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, and developmental delay, MIM#613402 23224214;20118933 False 3 100;0;0 1.313 True ENSG00000039650 ENSG00000039650 HGNC:9154 POC1A gene POC1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 False 3 100;0;0 1.313 True ENSG00000164087 ENSG00000164087 HGNC:24488 POGZ gene POGZ Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome, MIM# 616364;MONDO:0014606 33098347;31782611;26942287 False 3 100;0;0 1.313 True ENSG00000143442 ENSG00000143442 HGNC:18801 POLD1 gene POLD1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381 23770608 False 3 100;0;0 1.313 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome 618336 23230001;25948378;30503519 False 3 100;0;0 1.313 True ENSG00000177084 ENSG00000177084 HGNC:9177 POLR1A gene POLR1A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type, OMIM:616462;Acrofacial dysostosis Cincinnati type, MONDO:0014651 25913037;28051070 False 3 100;0;0 1.313 True ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1B gene POLR1B Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome type 4 31649276 False 3 100;0;0 1.313 True ENSG00000125630 ENSG00000125630 HGNC:20454 POLR1C gene POLR1C Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3, MIM# 248390 26151409 False 3 100;0;0 1.313 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, MIM# 613717 21131976;24603435;27448281;25790162 False 3 100;0;0 1.313 True ENSG00000186184 ENSG00000186184 HGNC:20422 POLR3A gene POLR3A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Wiedemann-Rautenstrauch syndrome, MIM# 264090 30323018 False 3 50;0;50 1.313 True ENSG00000148606 ENSG00000148606 HGNC:30074 POMGNT1 gene POMGNT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280 False 3 100;0;0 1.313 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830 False 3 100;0;0 1.313 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249 24556084;24925318;23519211 False 3 100;0;0 1.313 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Walker-Walburg syndrome 17878207;19299310 False 3 50;50;0 1.313 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 15894594;17878207 False 3 100;0;0 1.313 True ENSG00000009830 ENSG00000009830 HGNC:19743 POP1 gene POP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, OMIM:617396;Anauxetic dysplasia 2, MONDO:0054561 21455487;27380734;28067412 False 3 100;0;0 1.313 True ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 False 3 100;0;0 1.313 True ENSG00000127948 ENSG00000127948 HGNC:9208 PORCN gene PORCN Expert Review Green;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) Focal dermal hypoplasia, MIM# 305600 25026905 False 3 100;0;0 1.313 True ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1, MIM# 613038 7593413 False 3 100;0;0 1.313 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPFIBP1 gene PPFIBP1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024 PMID: 35830857;PMID: 37229200 False 3 100;0;0 1.313 True ENSG00000110841 ENSG00000110841 HGNC:9249 PPIB gene PPIB Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, MIM# 259440 19781681;32392875 False 3 100;0;0 1.313 True ENSG00000166794 ENSG00000166794 HGNC:9255 PPIL1 gene PPIL1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 14, MIM# 619301;microcephaly;seizures 33220177 False 3 100;0;0 1.313 True ENSG00000137168 ENSG00000137168 HGNC:9260 PPP1CB gene PPP1CB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506 32476286;28211982;27264673;27681385;27868344 False 3 100;0;0 1.313 True ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R12A gene PPP1R12A Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;holoprosencephaly;disorder of sex development PMID: 31883643 False 3 100;0;0 1.313 True ENSG00000058272 ENSG00000058272 HGNC:7618 PPP1R13L gene PPP1R13L Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 32666529;28864777 False 3 100;0;0 1.313 True ENSG00000104881 ENSG00000104881 HGNC:18838 PPP2CA gene PPP2CA Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and language delay with or without structural brain abnormalities - MIM#618354 30595372 False 3 100;0;0 1.313 True ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 33106617;26168268 False 3 100;0;0 1.313 True Other ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R3C gene PPP2R3C Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 30893644;34714774;34750818 False 3 100;0;0 1.313 True ENSG00000092020 ENSG00000092020 HGNC:17485 PPP2R5D gene PPP2R5D Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 1, MIM#616355 32074998;26168268 False 3 100;0;0 1.313 True ENSG00000112640 ENSG00000112640 HGNC:9312 PQBP1 gene PQBP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, MIM#309500 31840929;14634649;20410308 False 3 100;0;0 1.313 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRF1 gene PRF1 Expert list;Expert Review Green;Literature;Other Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aplastic anaemia - #609135;Haemophagocytic lymphohistiocytosis, familial, 2 - #603553 19595804;26199792;30070073 False 3 100;0;0 1.313 True ENSG00000180644 ENSG00000180644 HGNC:9360 PRG4 gene PRG4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 10545950;29397575 False 3 100;0;0 1.313 True ENSG00000116690 ENSG00000116690 HGNC:9364 PRKACA gene PRKACA Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1-MIM#619142 33058759 False 3 100;0;0 1.313 True ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 2 - MIM#619143 33058759 False 3 100;0;0 1.313 True ENSG00000142875 ENSG00000142875 HGNC:9381 PRKAG2 gene PRKAG2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glycogen storage disease of heart, lethal congenital, OMIM:261740;Lethal congenital glycogen storage disease of heart, MONDO:0009867 15877279;17667862;32646569 False 3 100;0;0 1.313 True ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAR1A gene PRKAR1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 1, with or without hormone resistance, MIM#101800 False 3 100;0;0 1.313 True ENSG00000108946 ENSG00000108946 HGNC:9388 PRKD1 gene PRKD1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects and ectodermal dysplasia, MIM#617364 32817298;33919081;27479907;25713110 False 3 33;67;0 1.313 True ENSG00000184304 ENSG00000184304 HGNC:9407 PRMT7 gene PRMT7 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157 26437029;27718516;30513135 False 3 100;0;0 1.313 True ENSG00000132600 ENSG00000132600 HGNC:25557 PRR12 gene PRR12 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome, MIM#619539;Complex microphthalmia 33314030;29556724 False 3 100;0;0 1.313 True ENSG00000126464 ENSG00000126464 HGNC:29217 PRRX1 gene PRRX1 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agnathia-otocephaly complex, MIM# 202650 21294718;22211708;22674740;23444262 False 3 100;0;0 1.313 True ENSG00000116132 ENSG00000116132 HGNC:9142 PRSS56 gene PRSS56 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, MIM# 613517 21532570;23127749;31992737 False 3 100;0;0 1.313 True ENSG00000237412 ENSG00000237412 HGNC:39433 PRUNE1 gene PRUNE1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 33105479;28334956;26539891 False 3 100;0;0 1.313 True ENSG00000143363 ENSG00000143363 HGNC:13420 PSAT1 gene PSAT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2, MONDO:0014466;Neu-Laxova syndrome 2, OMIM:616038 25152457;31903955;26960553;17436247 False 3 100;0;0 1.313 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSMF1 gene PSMF1 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 False 3 100;0;0 1.313 True ENSG00000125818 ENSG00000125818 HGNC:9571 PSPH gene PSPH Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency , MIM#614023;Neu-Luxova syndrome 14673469;25080166;27604308;26888760;25152457 False 3 100;0;0 1.313 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTCH1 gene PTCH1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, MIM# 610828 11941477;17001668;29575684 False 3 100;0;0 1.313 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTDSS1 gene PTDSS1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism MIM#151050 24241535;29341480;31403251 False 3 100;0;0 1.313 True ENSG00000156471 ENSG00000156471 HGNC:9587 PTF1A gene PTF1A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, MIM# 609069 21749365;10507728;15543146;19650412 False 3 100;0;0 1.313 True ENSG00000168267 ENSG00000168267 HGNC:23734 PTH1R gene PTH1R Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Chondrodysplasia, Blomstrand type, MIM# 215045" 3975110;9268097;8723092 False 3 100;0;0 1.313 True ENSG00000160801 ENSG00000160801 HGNC:9608 PTPN11 gene PTPN11 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1, AD, MIM#151100 AD;Noonan syndrome 1, AD, MIM#163950 11992261;21533187;24935154;30266093;28425981 False 3 100;0;0 1.313 True ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lymphedema-posterior choanal atresia syndrome, MONDO:0013324;Choanal atresia and lymphedema, OMIM:613611 20826270;https://doi.org/10.1016/j.mgene.2017.07.006 False 3 100;0;0 1.313 True ENSG00000152104 ENSG00000152104 HGNC:9647 PTPN23 gene PTPN23 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 31395947;29899372;29090338;27848944;25558065 False 3 100;0;0 1.313 True ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 False 3 100;0;0 1.313 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUF60 gene PUF60 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, MIM# 615583 28327570 False 3 100;0;0 1.313 True ENSG00000179950 ENSG00000179950 HGNC:17042 PXDN gene PXDN Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 21907015;24939590;32499604;32224865;32015378;31817535 False 3 100;0;0 1.313 True ENSG00000130508 ENSG00000130508 HGNC:14966 PYCR1 gene PYCR1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, MIM# 612940 False 3 100;0;0 1.313 True ENSG00000183010 ENSG00000183010 HGNC:9721 QARS gene QARS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 1.313 True ENSG00000172053 ENSG00000172053 HGNC:9751 RAB11B gene RAB11B Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM# 617807 29106825 False 3 100;0;0 1.313 True ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 21473985;23420520;11237903 False 3 100;0;0 1.313 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome (MIM#201000) 17503333;21412941;23599695;25168863 False 3 100;0;0 1.313 True ENSG00000112210 ENSG00000112210 HGNC:14263 RAB34 gene RAB34 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 PMID: 37384395 False 3 100;0;0 1.313 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118;Martsolf syndrome 2, MIM# 619420 15696165;20512159;23420520;23420520;30730599 False 3 100;0;0 1.313 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 23420520;20967465 False 3 100;0;0 1.313 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAC1 gene RAC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 48, MIM# 617751 30712878;28886345;30042656;29276006;30293988 False 3 100;0;0 1.313 True Other ENSG00000136238 ENSG00000136238 HGNC:9801 RAD21 gene RAD21 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM# 614701;Holoprosencephaly 30125677;32696056 False 3 100;0;0 1.313 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAD50 gene RAD50 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, MIM# 613078;MONDO:0013118 PMID: 19409520;32212377;33378670 False 3 100;0;0 1.313 True ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anaemia, complementation group R, MIM# 617244 26253028;26681308;30907510 False 3 100;0;0 1.313 True ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 29278735;20400963 False 3 100;0;0 1.313 True ENSG00000108384 ENSG00000108384 HGNC:9820 RAF1 gene RAF1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5, MIM# 611553 17603483;17603482;31145547;31030682;29271604 False 3 100;0;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 ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Magenis syndrome (MIM#182290) 11404004;12652298;15788730 False 3 100;0;0 1.313 True ENSG00000108557 ENSG00000108557 HGNC:9834 RAP1B gene RAP1B Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 PMID: 32627184;26280580 False 3 100;0;0 1.313 True ENSG00000127314 ENSG00000127314 HGNC:9857 RAPSN gene RAPSN Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326;Fetal akinesia deformation sequence 2, MIM# 618388 False 3 100;0;0 1.313 True ENSG00000165917 ENSG00000165917 HGNC:9863 RARB gene RARB Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, MIM# 615524 24075189;22686418 False 3 100;0;0 1.313 True ENSG00000077092 ENSG00000077092 HGNC:9865 RARS2 gene RARS2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM# 611523 17847012;20635367;25809939 False 3 100;0;0 1.313 True ENSG00000146282 ENSG00000146282 HGNC:21406 RASA1 gene RASA1 Expert Review;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 1, MIM# 608354 33461977;36980822 False 3 50;0;50 1.313 True ENSG00000145715 ENSG00000145715 HGNC:9871 RAX gene RAX Expert Review;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, MIM# 611038 14662654;18783408;30811539;24033328;22524605;30762128 False 3 50;0;50 1.313 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP8 gene RBBP8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Jawad syndrome, MIM# 251255;Seckel syndrome 2, MONDO:0011715;Seckel syndrome 2, OMIM:606744 26333564;24440292;21998596;24389050 False 3 100;0;0 1.313 True ENSG00000101773 ENSG00000101773 HGNC:9891 RBFOX2 gene RBFOX2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RBFOX2-related congenital heart disorder (MONDO:0100557) 26785492;27670201;27485310;25205790;35137168;26785492;37165897 False 3 50;50;0 1.313 True ENSG00000100320 ENSG00000100320 HGNC:9906 RBM10 gene RBM10 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Tarp syndrome, MONDO:0010711;TARP syndrome, OMIM:311900 20451169;24259342;30450804;30189253 False 3 100;0;0 1.313 True ENSG00000182872 ENSG00000182872 HGNC:9896 RBM8A gene RBM8A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thrombocytopaenia-absent radius syndrome, MIM# 274000 False 3 100;0;0 1.313 True ENSG00000131795 ENSG00000265241 HGNC:9905 RBP4 gene RBP4 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, isolated, with coloboma 10 MIM#616428 25910211;29178648 False 3 100;0;0 1.313 True ENSG00000138207 ENSG00000138207 HGNC:9922 RBPJ gene RBPJ Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, MIM#614814 22883147;28160419 False 3 100;0;0 1.313 True ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, MIM# 218600;RAPADILINO syndrome, MIM# 266280;Rothmund-Thomson syndrome, type 2,MIM#268400 False 3 100;0;0 1.313 True ENSG00000160957 ENSG00000160957 HGNC:9949 RELN gene RELN Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), MIM# 257320 10973257;29671837;16958033;31805691 False 3 100;0;0 1.313 True ENSG00000189056 ENSG00000189056 HGNC:9957 REN gene REN Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM#267430 31736371;16116425;22095942 False 3 100;0;0 1.313 True ENSG00000143839 ENSG00000143839 HGNC:9958 RERE gene RERE Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 27087320;23451234;30896913;30061196 False 3 100;0;0 1.313 True ENSG00000142599 ENSG00000142599 HGNC:9965 RET gene RET Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM#209880;Multiple endocrine neoplasia IIA, MIM#171400;Multiple endocrine neoplasia IIB, MIM#162300 False 3 50;0;50 1.313 True ENSG00000165731 ENSG00000165731 HGNC:9967 RFX6 gene RFX6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, MIM#615710 20148032;26264437 False 3 100;0;0 1.313 True ENSG00000185002 ENSG00000185002 HGNC:21478 RHEB gene RHEB Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Macrocephaly;Focal cortical dysplasia 29051493;31337748 False 3 100;0;0 1.313 True ENSG00000106615 ENSG00000106615 HGNC:10011 RIN2 gene RIN2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 19631308;20424861;20954239;24449201;30769224 False 3 100;0;0 1.313 True ENSG00000132669 ENSG00000132669 HGNC:18750 RIPK4 gene RIPK4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 28425981;28940926;22197489;22197488 False 3 100;0;0 1.313 True ENSG00000183421 ENSG00000183421 HGNC:496 RIT1 gene RIT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8, MIM# 615355 30712878;28425981;23791108;25124994;24939608;27101134 False 3 100;0;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 ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Tonne-Kalscheuer syndrome, MIM# 300978 29728705;25735484;25644381 False 3 100;0;0 1.313 True ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922 23022099;25604853;27843092 False 3 50;0;50 1.313 True ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 1, MIM#607095 False 3 100;0;0 1.313 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 MIM#610333 15870678;25604658;23592335 False 3 100;0;0 1.313 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 16845400;33307271;29239743 False 3 100;0;0 1.313 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3 (MIM# 610329), AR 20301648;24183309;23322642 False 3 100;0;0 1.313 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNF113A gene RNF113A Expert list;Expert Review Green Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Trichothiodystrophy 5, nonphotosensitive;OMIM #300953 PMID: 25612912;31793730;31880405 False 3 100;0;0 1.313 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNF125 gene RNF125 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tenorio syndrome - MIM# 616260 25196541 False 3 100;0;0 1.313 True ENSG00000101695 ENSG00000101695 HGNC:21150 RNU12 gene RNU12 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal CDAGS syndrome MIM#603116;Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations 34085356 False 3 100;0;0 1.313 True - - HGNC:19380 RNU4ATAC gene RNU4ATAC Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710;Roifman syndrome, MIM#616651 False 3 100;0;0 1.313 True Other ENSG00000264229 ENSG00000264229 HGNC:34016 ROBO1 gene ROBO1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot and septal defects;Congenital heart disease, MONDO:0005453 30712880;28485101;28592524 False 3 100;0;0 1.313 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO2 gene ROBO2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 2 - MIM#610878;CAKUT 18235093;19350278;24429398;17357069;26026792;29194579;34059960 False 3 100;0;0 1.313 True ENSG00000185008 ENSG00000185008 HGNC:10250 ROBO3 gene ROBO3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790;Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313 16525029;15105459 False 3 100;0;0 1.313 True ENSG00000154134 ENSG00000154134 HGNC:13433 ROGDI gene ROGDI Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, MIM# 226750 22424600;23086778;33866847 False 3 100;0;0 1.313 True ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Brachydactyly, type B1 MIM#113000;Robinow syndrome, autosomal recessive MIM#268310 10932186;10932187;10986040;19461659;20301418 False 3 100;0;0 1.313 True ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561 17558409;17558407;17960139;26071364 False 3 100;0;0 1.313 True ENSG00000103494 ENSG00000103494 HGNC:29168 RPL10 gene RPL10 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, syndromic, 35, MONDO:0030908;Mental retardation, X-linked, syndromic, 35, OMIM:300998 25316788;26290468;25846674;29066376 False 3 100;0;0 1.313 True ENSG00000147403 ENSG00000147403 HGNC:10298 RPL11 gene RPL11 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia with cleft palate and abnormal thumbs;Diamond-Blackfan anaemia 7, MIM# 612562;MONDO:0012938 19061985 False 3 50;0;50 1.313 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diamond-Blackfan anemia 12 - MIM#615550;multiple congenital malformations;hydrops 20301769;29599205;23812780 False 3 100;0;0 1.313 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 11, MIM# 614900 22431104;39268718 False 3 100;0;0 1.313 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 5, OMIM:612528;Diamond-Blackfan anemia 5, MONDO:0012925 18535205;32241839 False 3 100;0;0 1.313 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 6, MIM# 612561;MONDO:0012937 19061985 False 3 100;0;0 1.313 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 9, MIM# 613308 20116044;23718193;25946618 False 3 100;0;0 1.313 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 4, MIM# 612527 17647292;19061985;23812780;23718193 False 3 100;0;0 1.313 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 1, MIM# 105650;MONDO:0007110 9988267;10590074 False 3 100;0;0 1.313 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anemia 3, OMIM:610629;Diamond-Blackfan anemia 3, MONDO:0012529 False 3 100;0;0 1.313 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 20116044;23812780;24942156 False 3 100;0;0 1.313 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS6KA3 gene RPS6KA3 Expert Review Green;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) Coffin-Lowry syndrome MIM#303600;Intellectual developmental disorder, X-linked 19 MIM#300844 20301520 False 3 100;0;0 1.313 True ENSG00000177189 ENSG00000177189 HGNC:10432 RPS7 gene RPS7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 8, MONDO:0012939;Diamond-Blackfan anemia 8, OMIM:612563 19061985;23718193;27882484;32772263 False 3 100;0;0 1.313 True ENSG00000171863 ENSG00000171863 HGNC:10440 RRAS2 gene RRAS2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 12, MONDO:0032839;Noonan syndrome 12, OMIM:618624 31130282 False 3 100;0;0 1.313 True ENSG00000133818 ENSG00000133818 HGNC:17271 RSPO2 gene RSPO2 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Tetraamelia syndrome 2, MIM# 618021 29769720;32457899 False 3 100;0;0 1.313 True ENSG00000147655 ENSG00000147655 HGNC:28583 RTEL1 gene RTEL1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 MIM#615190;Hoyeraal-Hreidarsson syndrome 23329068;20301779;29296694 False 3 100;0;0 1.313 True ENSG00000258366 ENSG00000258366 HGNC:15888 RTTN gene RTTN Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833;Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 22939636;26608784;26940245;30121372;29967526;30927481;30121372 False 3 100;0;0 1.313 True ENSG00000176225 ENSG00000176225 HGNC:18654 RUNX2 gene RUNX2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysplasia MIM#119600;Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600 20301686 False 3 100;0;0 1.313 True ENSG00000124813 ENSG00000124813 HGNC:10472 RYR1 gene RYR1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fetal akinesia sequence 32655342;32097819;30236493 False 3 100;0;0 1.313 True ENSG00000196218 ENSG00000196218 HGNC:10483 SALL1 gene SALL1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480;MONDO:0054581 False 3 100;0;0 1.313 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, MIM# 607323;MONDO:0011812;IVIC syndrome, MIM# 147750;MONDO:0007836 False 3 100;0;0 1.313 True ENSG00000101115 ENSG00000101115 HGNC:15924 SAMD9 gene SAMD9 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, MIM#617053 28346228;27182967 False 3 100;0;0 1.313 True Other ENSG00000205413 ENSG00000205413 HGNC:1348 SAMHD1 gene SAMHD1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM#612952 21102625 False 3 100;0;0 1.313 True ENSG00000101347 ENSG00000101347 HGNC:15925 SASS6 gene SASS6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 14, primary, autosomal recessive, MIM# 616402 24951542;30639237;38501757;36739862 False 3 50;50;0 1.313 True ENSG00000156876 ENSG00000156876 HGNC:25403 SATB2 gene SATB2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 29023086;28151491;32446642 False 3 100;0;0 1.313 True ENSG00000119042 ENSG00000119042 HGNC:21637 SBDS gene SBDS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM#260400 19906387 False 3 100;0;0 1.313 True ENSG00000126524 ENSG00000126524 HGNC:19440 SC5D gene SC5D Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, MIM#607330 12189593;17853487 False 3 100;0;0 1.313 True ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, MIM#620511 PMID: 32730804 False 3 100;0;0 1.313 True ENSG00000156304 ENSG00000156304 HGNC:19304 SCARF2 gene SCARF2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, MIM# 600920 20887961;23808541;24478002;27375131;24478002 False 3 100;0;0 1.313 True ENSG00000244486 ENSG00000244486 HGNC:19869 SCLT1 gene SCLT1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome;Bardet-Biedl syndrome 28486600;30425282;23348840;24285566;28005958;32253632 False 3 33;33;33 1.313 True ENSG00000151466 ENSG00000151466 HGNC:26406 SCN1A gene SCN1A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome, OMIM:607208;Arthrogryposis multiplex congenita 29543227;32928894;35072530;33820833 False 3 100;0;0 1.313 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 11, MIM#613721 30712878;28254201 False 3 100;0;0 1.313 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 4, MIM# 617935;Epileptic encephalopathy, early infantile, 62, MIM# 617938;Intellectual disability;Malformations of cortical development 32515017;30146301;29740860 False 3 100;0;0 1.313 True Other ENSG00000153253 ENSG00000153253 HGNC:10590 SCN4A gene SCN4A Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Congenital myopathy 22B, severe fetal, MIM# 620369;Myasthenic syndrome, congenital, 16 MIM#614198 26700687 False 3 100;0;0 1.313 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCN5A gene SCN5A Expert list;Expert Review;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sudden infant death syndrome, susceptibility to - #272120;Long QT syndrome 3 - #603830 22064211;15184283;19419784 False 3 100;0;0 1.313 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCNN1A gene SCNN1A Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I - MIM#264350 PubMed: 8589714, 31301676 False 3 100;0;0 1.313 True ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I - MIM#264350 PubMed: 8589714 False 3 100;0;0 1.313 True ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I - MIM#264350 8640238;11231969;31522814;7633160 False 3 0;100;0 1.313 True ENSG00000166828 ENSG00000166828 HGNC:10602 SCO2 gene SCO2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 15210538;18924171;22231385 False 3 100;0;0 1.313 True ENSG00000130489 ENSG00000130489 HGNC:10604 SCUBE3 gene SCUBE3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184;short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 33308444 False 3 100;0;0 1.313 True ENSG00000146197 ENSG00000146197 HGNC:13655 SDCCAG8 gene SDCCAG8 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 1.313 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC23B gene SEC23B Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II 224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 20381388 False 3 100;0;0 1.313 True ENSG00000101310 ENSG00000101310 HGNC:10702 SEC24D gene SEC24D Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome 2, MIM# 616294 30462379;27942778;26467156;25683121 False 3 100;0;0 1.313 True ENSG00000150961 ENSG00000150961 HGNC:10706 SEMA3A gene SEMA3A Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897;congenital heart disease;skeletal anomalies 28075028;33369061;20301509;21059704;24124006;22927827 False 3 100;0;0 1.313 True ENSG00000075213 ENSG00000075213 HGNC:10723 SENP7 gene SENP7 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related PMID: 37460201 False 3 50;50;0 1.313 True ENSG00000138468 ENSG00000138468 HGNC:30402 SEPSECS gene SEPSECS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, MIM#613811 26805434;26888482;29464431;12920088;25044680 False 3 100;0;0 1.313 True ENSG00000109618 ENSG00000109618 HGNC:30605 SERPINH1 gene SERPINH1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta type 10, MONDO:0013459;Osteogenesis imperfecta, type X, OMIM:613848 20188343 False 3 50;0;50 1.313 True ENSG00000149257 ENSG00000149257 HGNC:1546 SETBP1 gene SETBP1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schinzel-Giedion midface retraction syndrome, MIM# 269150 20436468 False 3 100;0;0 1.313 True ENSG00000152217 ENSG00000152217 HGNC:15573 SETD2 gene SETD2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome, MIM#616831 29681085 False 3 100;0;0 1.313 True ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 23 (MIM # 615761) 29484850 False 3 100;0;0 1.313 True ENSG00000168137 ENSG00000168137 HGNC:25566 SF3B2 gene SF3B2 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia, MIM#164210 34344887 False 3 100;0;0 1.313 True ENSG00000087365 ENSG00000087365 HGNC:10769 SF3B4 gene SF3B4 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type, MIM# 154400 22541558 False 3 100;0;0 1.313 True ENSG00000143368 ENSG00000143368 HGNC:10771 SGPL1 gene SGPL1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sphingosine Phosphate Lyase Insufficiency Syndrome;RENI syndrome (MIM#617575) 28165343;33074640 False 3 100;0;0 1.313 True ENSG00000166224 ENSG00000166224 HGNC:10817 SH3PXD2B gene SH3PXD2B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, MIM#249420 15523657;24105366 False 3 100;0;0 1.313 True ENSG00000174705 ENSG00000174705 HGNC:29242 SHH gene SHH Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 1. Holoprosencephaly 3 (MIM#142945), AD;2. Microphthalmia with coloboma 5 (MIM#611638), AD;3. Schizencephaly (MIM#269160);4. Single median maxillary central incisor (MIM#147250) AD 21976454;12503095;22791840;19057928;19533790 False 3 67;0;33 1.313 True ENSG00000164690 ENSG00000164690 HGNC:10848 SHMT2 gene SHMT2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polymicrogyria;corpus callosum anomalies;Microcephaly;Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121 33015733 False 3 100;0;0 1.313 True ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, MIM# 607721 19684605;23918763;20882035 False 3 100;0;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 ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leri-Weill dyschondrosteosis, MIM# 127300;Langer mesomelic dysplasia, MIM#249700 False 3 100;0;0 1.313 True ENSG00000185960 ENSG00000185960 HGNC:10853 SHROOM4 gene SHROOM4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Stocco dos Santos X-linked mental retardation syndrome, 300434 32565546;16249884;26740508 False 3 50;0;50 1.313 True ENSG00000158352 ENSG00000158352 HGNC:29215 SIL1 gene SIL1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 24176978;16282977 False 3 100;0;0 1.313 True ENSG00000120725 ENSG00000120725 HGNC:24624 SIN3A gene SIN3A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Witteveen-Kolk syndrome, MIM # 613406 27399968 False 3 100;0;0 1.313 True ENSG00000169375 ENSG00000169375 HGNC:19353 SIX3 gene SIX3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, MIM# 157170;Schizencephaly (MIM#269160) 20157829;21976454 False 3 50;50;0 1.313 True ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM#182212 15884042;23023332 False 3 100;0;0 1.313 True ENSG00000157933 ENSG00000157933 HGNC:10896 SKIV2L gene SKIV2L Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM#614602 False 3 50;0;50 1.313 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC10A7 gene SLC10A7 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 29878199;30082715;31191616 False 3 100;0;0 1.313 True ENSG00000120519 ENSG00000120519 HGNC:23088 SLC12A1 gene SLC12A1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM#601678 False 3 100;0;0 1.313 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A6 gene SLC12A6 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 31439721;21628467;16606917;12368912;27485015;17893295 False 3 100;0;0 1.313 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC13A5 gene SLC13A5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905;MONDO:0014392 24995870;26384929 False 3 100;0;0 1.313 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC17A5 gene SLC17A5 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, MIM#269920;MONDO:0010027 33862140;10581036;10947946 False 3 100;0;0 1.313 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC20A1 gene SLC20A1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related 32850778;27013921 False 3 100;0;0 1.313 True ENSG00000144136 ENSG00000144136 HGNC:10946 SLC25A24 gene SLC25A24 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, MIM#612289 29100093;29100094;29100094;31775791;32732226;32860237 False 3 100;0;0 1.313 True ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A4 gene SLC25A4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 30013777;27693233 False 3 50;0;50 1.313 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC26A2 gene SLC26A2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Achondrogenesis 1B, MIM#600972;Atelosteogenesis, type II, MIM#256050;Diastrophic dysplasia, MIM#222600;Epiphyseal dysplasia, multiple, 4, MIM#226900 20301483;20301689;11241838;31880411 False 3 33;67;0 1.313 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diarrhea 1, secretory chloride, congenital, MIM#214700 31325522;31477378;21394828 False 3 100;0;0 1.313 True ENSG00000091138 ENSG00000091138 HGNC:3018 SLC27A4 gene SLC27A4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, MIM#608649 21856041;19631310;31168818 False 3 100;0;0 1.313 True ENSG00000167114 ENSG00000167114 HGNC:10998 SLC29A3 gene SLC29A3 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal H syndrome, MONDO:0011273;Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 18940313;19336477;22238637 False 3 50;0;50 1.313 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A10 gene SLC2A10 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, MIM# 208050 False 3 50;0;50 1.313 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC33A1 gene SLC33A1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482" 31194315 False 3 100;0;0 1.313 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A2 gene SLC35A2 Expert Review Green;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 IIm (MIM #300896) 23561849;24115232;27743886;25778940;30817854 False 3 100;0;0 1.313 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35D1 gene SLC35D1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia 269250, MONDO:0010013;O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) 17952091;19508970;31423530 False 3 100;0;0 1.313 True ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A8 gene SLC39A8 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 26637978;26637979 False 3 100;0;0 1.313 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC5A5 gene SLC5A5 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1 - MIM#274400 34806438;34726525;33815280;32805706;31115276 False 3 100;0;0 1.313 True ENSG00000105641 ENSG00000105641 HGNC:11040 SLC5A7 gene SLC5A7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 20, MONDO:0014939;Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 27569547;31299140;29189923;30172469 False 3 100;0;0 1.313 True ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A9 gene SLC6A9 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine 617301;Arthrogryposis 27773429;27481395;31875334;32712301;33269555 False 3 100;0;0 1.313 True ENSG00000196517 ENSG00000196517 HGNC:11056 SLX4 gene SLX4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951;MONDO:0013499 21240277;21240275 False 3 100;0;0 1.313 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD2 gene SMAD2 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 6, MIM# 619656;Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657 29967133;30157302;23665959 False 3 100;0;0 1.313 True ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome, SMAD3 related, MIM#613795, MONDO:0018954 False 3 100;0;0 1.313 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myhre syndrome, OMIM#139210, MONDO:0007688 False 3 100;0;0 1.313 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMAD6 gene SMAD6 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 2 - MIM#614823;{Craniosynostosis 7, susceptibility to} - MIM#617439;{Radioulnar synostosis, nonsyndromic} - #179300 22275001;31138930;27606499;32499606 False 3 100;0;0 1.313 True ENSG00000137834 ENSG00000137834 HGNC:6772 SMARCA2 gene SMARCA2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome, MIM #601358;Blepharophimosis-intellectual disability syndrome 26468571;32694869 False 3 100;0;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 ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4, MIM# 614609 33461977 False 3 100;0;0 1.313 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCAL1 gene SMARCAL1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia (MIM#242900) 15523612;20301550;20301550;17089404;20036229 False 3 100;0;0 1.313 True ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCB1 gene SMARCB1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3, OMIM #614608 22426308;22726846;23929686 False 3 100;0;0 1.313 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC1 gene SMARCC1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corpus callosum abnormalities;Aqueductal stenosis;Septal agenesis;Congenital hydrocephalus 29983323;32732226;24170322;33077954 False 3 100;0;0 1.313 True ENSG00000173473 ENSG00000173473 HGNC:11104 SMARCE1 gene SMARCE1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5, MIM# 616938 22426308;23906836;23929686;32732226;32436246;32410215 False 3 100;0;0 1.313 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert Review Green;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) Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771;Cornelia de Lange syndrome 2, OMIM:300590;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Cornelia de Lange syndrome 2, MONDO:0010370 False 3 100;0;0 1.313 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3, MIM# 610759 False 3 100;0;0 1.313 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMCHD1 gene SMCHD1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bosma arhinia microphthalmia syndrome (MIM#603457) 28067911;31243061 False 3 50;0;50 1.313 True ENSG00000101596 ENSG00000101596 HGNC:29090 SMG9 gene SMG9 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Heart and brain malformation syndrome, MIM# 616920 31390136;27018474 False 3 100;0;0 1.313 True ENSG00000105771 ENSG00000105771 HGNC:25763 SMN1 gene SMN1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy 253400;Spinal muscular atrophy 271150;Spinal muscular atrophy 253550;Spinal muscular atrophy 253300 32644125;11826188;32644120 False 3 100;0;0 1.313 True ENSG00000172062 ENSG00000172062 HGNC:11117 SMO gene SMO Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Curry-Jones syndrome, somatic mosaic, MIM#601707 27236920;24859340 False 3 50;50;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 ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, MIM# 206920 21194678;21194680;30445150 False 3 100;0;0 1.313 True ENSG00000198732 ENSG00000198732 HGNC:20318 SMPD1 gene SMPD1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756 32292456;32280632;28164782 False 3 100;0;0 1.313 True ENSG00000166311 ENSG00000166311 HGNC:11120 SMPD4 gene SMPD4 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838;Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622 31495489 False 3 100;0;0 1.313 True ENSG00000136699 ENSG00000136699 HGNC:32949 SNAP29 gene SNAP29 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal CEDNIK syndrome, MONDO:0012290;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 28388629;21073448;15968592;29051910;30793783 False 3 100;0;0 1.313 True ENSG00000099940 ENSG00000099940 HGNC:11133 SNORD118 gene SNORD118 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561 27571260 False 3 100;0;0 1.313 True ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPB gene SNRPB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebrocostomandibular syndrome, MIM# 117650 25047197;25504470;26971886 False 3 100;0;0 1.313 True ENSG00000125835 ENSG00000125835 HGNC:11153 SON gene SON Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome, MIM# 617140 27545680;27545676;31005274 False 3 100;0;0 1.313 True ENSG00000159140 ENSG00000159140 HGNC:11183 SOS1 gene SOS1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4, MIM# 610733 17143285;17143282;28884940;17586837 False 3 100;0;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 ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 9, 616559;Fetal hydrops False 3 100;0;0 1.313 True ENSG00000100485 ENSG00000100485 HGNC:11188 SOST gene SOST Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 1, OMIM#269500;Craniodiaphyseal dysplasia, OMIM#122860 False 3 50;0;50 1.313 True ENSG00000167941 ENSG00000167941 HGNC:13771 SOX10 gene SOX10 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH syndrome (MIM#609136);Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584);Waardenburg syndrome, type 4C (MIM#613266) False 3 50;0;50 1.313 True ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 9, OMIM # 615866 24886874;33785884;33430815;33086258;31530938 False 3 100;0;0 1.313 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX18 gene SOX18 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 12740761;26631803 False 3 100;0;0 1.313 True ENSG00000203883 ENSG00000203883 HGNC:11194 SOX2 gene SOX2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3, MIM# 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 30450772;28121235;25542770;24498598;24211324;24033328;21326281 False 3 100;0;0 1.313 True ENSG00000181449 ENSG00000181449 HGNC:11195 SOX6 gene SOX6 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tolchin-Le Caignec syndrome, MONDO:0033544;Tolchin-Le Caignec syndrome, OMIM:618971 32442410 False 3 100;0;0 1.313 True ENSG00000110693 ENSG00000110693 HGNC:16421 SOX9 gene SOX9 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal (MIM#114290);Campomelic dysplasia (MIM#114290);Acampomelic campomelic dysplasia (MIM#114290) 30712880;28425981;9002675 False 3 100;0;0 1.313 True ENSG00000125398 ENSG00000125398 HGNC:11204 SPAG1 gene SPAG1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28 (MIM#615505) 24055112;32502479 False 3 100;0;0 1.313 True ENSG00000104450 ENSG00000104450 HGNC:11212 SPATA5 gene SPATA5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 30009132;29343804;26299366 False 3 100;0;0 1.313 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPECC1L gene SPECC1L Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Opitz GBBB syndrome, type II, MIM# 145410;Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779 32954677 False 3 100;0;0 1.313 True ENSG00000100014 ENSG00000100014 HGNC:29022 SPEG gene SPEG Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 False 3 50;0;50 1.313 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPEN gene SPEN Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radio-Tartaglia syndrome - MIM#619312 33596411 False 3 100;0;0 1.313 True ENSG00000065526 ENSG00000065526 HGNC:17575 SPINT2 gene SPINT2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420;congenital secretory sodium diarrhea 3 - MONDO#0010036 19185281;20009592;24142340;30445423;33547739;33374714;33029133 False 3 100;0;0 1.313 True ENSG00000167642 ENSG00000167642 HGNC:11247 SPRED2 gene SPRED2 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 14, MIM# 619745 34626534 False 3 100;0;0 1.313 True ENSG00000198369 ENSG00000198369 HGNC:17722 SPTA1 gene SPTA1 Expert Review;Expert Review Green Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis type 3 #270970;Elliptocytosis-2 #130600;pyropoikilocytosis #266140 34132406;35483216;31333484;29594000 False 3 100;0;0 1.313 True ENSG00000163554 ENSG00000163554 HGNC:11272 SRCAP gene SRCAP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome, MIM# 136140 33909990 False 3 100;0;0 1.313 True ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A2 gene SRD5A2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pseudovaginal perineoscrotal hypospadias 264600 12843198;11869378;18350250;1944596 False 3 100;0;0 1.313 True ENSG00000049319 ENSG00000277893 HGNC:11285 SRD5A3 gene SRD5A3 Expert Review Green;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, MIM# 612379;Kahrizi syndrome, MIM# 612713 18271001;20637498;31638560;27480077;32424323 False 3 50;0;50 1.313 True ENSG00000128039 ENSG00000128039 HGNC:25812 SRY gene SRY Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal 1, OMIM #400044;46XX sex reversal 1, OMIM #400045 1570829;1734522;9143916;12764225 False 3 100;0;0 1.313 True ENSG00000184895 ENSG00000184895 HGNC:11311 STAC3 gene STAC3 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bailey-Bloch congenital myopathy, MONDO:0009722;Myopathy, congenital, Baily-Bloch, OMIM:255995 23736855;30168660;28777491 False 3 50;0;50 1.313 True ENSG00000185482 ENSG00000185482 HGNC:28423 STAG2 gene STAG2 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Mullegama-Klein-Martinez syndrome, MIM# 301022;Holoprosencephaly 13, X-linked, MIM# 301043" 29263825;28296084;30158690;30447054;30765867;31334757 False 3 100;0;0 1.313 True ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261;MONDO:0013659 23542699;31638258;29907875;27531570;25692795;25266620 False 3 100;0;0 1.313 True ENSG00000124356 ENSG00000124356 HGNC:16950 STAR gene STAR Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia (MIM#201710) 8948562;7892608;8948562;9097960;11061515;11297612;14764819;16968793;9326645 False 3 67;0;33 1.313 True ENSG00000147465 ENSG00000147465 HGNC:11359 STAT3 gene STAT3 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome - MIM#147060;Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952 30617622;31771449;34366294 False 3 100;0;0 1.313 True ENSG00000168610 ENSG00000168610 HGNC:11364 STIL gene STIL Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, autosomal recessive, MONDO:0012989;Microcephaly 7, primary, autosomal recessive, OMIM:612703 29230157;19215732;22989186;25218063;33132204;32677750;29230157 False 3 100;0;0 1.313 True ENSG00000123473 ENSG00000123473 HGNC:10879 STIM1 gene STIM1 Expert list;Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Immunodeficiency 10 - #612783;Myopathy, tubular aggregate, 1 - #160565;Stormorken syndrome - #185070" 31448844;20876309 False 3 100;0;0 1.313 True ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868 22294732;26117625;22174160;22952854 False 3 100;0;0 1.313 True ENSG00000101109 ENSG00000101109 HGNC:11408 STRA6 gene STRA6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, MIM# 601186 26373900;22686418 False 3 100;0;0 1.313 True ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087;Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 17522105;27170158;28688840 False 3 100;0;0 1.313 True ENSG00000266173 ENSG00000266173 HGNC:30172 STT3A gene STT3A Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant - MIM#619714;Congenital disorder of glycosylation, type Iw, autosomal recessive - MIM#615596 34653363;23842455;30701557;28424003 False 3 100;0;0 1.313 True ENSG00000134910 ENSG00000134910 HGNC:6172 SUCLG1 gene SUCLG1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 21093335;17668387;19526370;20693550;30470562;33230783;28358460 False 3 50;50;0 1.313 True ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell nevus syndrome, MIM# 109400 21289193;33024317;28965847 False 3 100;0;0 1.313 True ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, MIM# 272200 31497481 False 3 100;0;0 1.313 True ENSG00000144455 ENSG00000144455 HGNC:20376 SUZ12 gene SUZ12 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Imagawa-Matsumoto syndrome #618786 30019515;28229514;31736240 False 3 100;0;0 1.313 True ENSG00000178691 ENSG00000178691 HGNC:17101 SYNE1 gene SYNE1 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484;Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 27782104;19542096;24319099 False 3 100;0;0 1.313 True ENSG00000131018 ENSG00000131018 HGNC:17089 SYT2 gene SYT2 Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040;Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 25192047;32776697;32250532;30533528 False 3 100;0;0 1.313 True ENSG00000143858 ENSG00000143858 HGNC:11510 SZT2 gene SZT2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 18, MIM #615476 23932106;30560016;30359774;28556953;32402703 False 3 100;0;0 1.313 True ENSG00000198198 ENSG00000198198 HGNC:29040 TAB2 gene TAB2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980) 34456334 False 3 100;0;0 1.313 True ENSG00000055208 ENSG00000055208 HGNC:17075 TAF1 gene TAF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 33, MIM# 300966 32396742;31646703;26637982;31341187 False 3 50;50;0 1.313 True ENSG00000147133 ENSG00000147133 HGNC:11535 TALDO1 gene TALDO1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, 606003;Fetal hydrops 25388407;23315216;29923087;26238251;11283793 False 3 100;0;0 1.313 True ENSG00000177156 ENSG00000177156 HGNC:11559 TAOK1 gene TAOK1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 35091509;31230721;33565190 False 3 100;0;0 1.313 True ENSG00000160551 ENSG00000160551 HGNC:29259 TAZ gene TAZ Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM#302060 29476731;31598953 False 3 100;0;0 1.313 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D1 gene TBC1D1 Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26572137 False 3 100;0;0 1.313 True ENSG00000065882 ENSG00000065882 HGNC:11578 TBC1D20 gene TBC1D20 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM# 615663 24239381 False 3 100;0;0 1.313 True ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D24 gene TBC1D24 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal DOORS syndrome MIM#220500 25719194 False 3 100;0;0 1.313 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D32 gene TBC1D32 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orofacial digital syndrome type IX 32573025;32060556;31130284 False 3 100;0;0 1.313 True ENSG00000146350 ENSG00000146350 HGNC:21485 TBCD gene TBCD Expert Review;Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Literature;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646;Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 27666370;27666374 False 3 100;0;0 1.313 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410;Kenny-Caffey syndrome, type 1, OMIM #244460;Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207 12389028;27666369 False 3 100;0;0 1.313 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 27040692;30103036;27040691 False 3 100;0;0 1.313 True ENSG00000145348 ENSG00000145348 HGNC:28261 TBX1 gene TBX1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome, MIM# 188400 31428446;32110744;29250159;30137364;24998776;28272434 False 3 100;0;0 1.313 True ENSG00000184058 ENSG00000184058 HGNC:11592 TBX15 gene TBX15 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cousin syndrome, MIM# 260660;Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature 19068278;24039145 False 3 100;0;0 1.313 True ENSG00000092607 ENSG00000092607 HGNC:11594 TBX18 gene TBX18 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 2, MIM# 143400 26235987 False 3 100;0;0 1.313 True ENSG00000112837 ENSG00000112837 HGNC:11595 TBX20 gene TBX20 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 4, MIM# 611363 17668378;19762328;33585493;29089047 False 3 100;0;0 1.313 True ENSG00000164532 ENSG00000164532 HGNC:11598 TBX22 gene TBX22 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Cleft palate with ankyloglossia, MIM# 303400;Abruzzo-Erickson syndrome, MIM# 302905 11559848;12374769;14729838;17868388;22784330;22784330 False 3 100;0;0 1.313 True ENSG00000122145 ENSG00000122145 HGNC:11600 TBX3 gene TBX3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome, MIM# 181450;MONDO:0008411 9207801;19938096;28145909 False 3 100;0;0 1.313 True ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360;Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891 23592887;31151956;31761294;31965066 False 3 100;0;0 1.313 True ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, MIM# 142900 10077612;31373354 False 3 100;0;0 1.313 True ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 5 , MIM#122600 8954725;20503311;23335591;25564734;31015262;30307510;31015262 False 3 100;0;0 1.313 True ENSG00000149922 ENSG00000149922 HGNC:11605 TCF12 gene TCF12 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 3, MIM# 615314 23354436 False 3 100;0;0 1.313 True ENSG00000140262 ENSG00000140262 HGNC:11623 TCF4 gene TCF4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome, MIM# 610954 18728071;22934316 False 3 100;0;0 1.313 True ENSG00000196628 ENSG00000196628 HGNC:11634 TCIRG1 gene TCIRG1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, infantile malignant 259700 False 3 100;0;0 1.313 True ENSG00000110719 ENSG00000110719 HGNC:11647 TCOF1 gene TCOF1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1, MIM# 154500 False 3 100;0;0 1.313 True ENSG00000070814 ENSG00000070814 HGNC:11654 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565;JATD;Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 28475963;26044572;25830415 False 3 100;0;0 1.313 True ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173 21725307;26477546;31302911;26489806;22693042 False 3 100;0;0 1.313 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725;30712880 False 3 100;0;0 1.313 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, OMIM #614815;Orofaciodigital syndrome IV, OMIM #258860 22883145;25118024;26092869;32139166 False 3 50;50;0 1.313 True ENSG00000119977 ENSG00000119977 HGNC:24519 TELO2 gene TELO2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848;You-Hoover-Fong syndrome, OMIM:616954 27132593;28944240 False 3 100;0;0 1.313 True ENSG00000100726 ENSG00000100726 HGNC:29099 TENM3 gene TENM3 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 9, MONDO:0014059;Microphthalmia, syndromic 15, MIM#615145;coloboma 22766609;27103084;30513139;29753094 False 3 100;0;0 1.313 True ENSG00000218336 ENSG00000218336 HGNC:29944 TFAP2A gene TFAP2A Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 19206157;19685247;20358615;32766183;24783654 False 3 50;0;50 1.313 True ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome, MIM# 169100;Syndromic craniosynostosis 31292255 False 3 50;0;50 1.313 True ENSG00000008196 ENSG00000008196 HGNC:11743 TG gene TG Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3 - MIM#274700 33832185;19169491;28620499;18631008;12915634 False 3 100;0;0 1.313 True ENSG00000042832 ENSG00000042832 HGNC:11764 TGDS gene TGDS Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome, MIM# 616145 25480037 False 3 100;0;0 1.313 True ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB2 gene TGFB2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, MIM# 614816 False 3 100;0;0 1.313 True ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 5, MIM# 615582 False 3 100;0;0 1.313 True ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Loeys-Dietz syndrome 1, MIM# 609192 False 3 67;0;33 1.313 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2, MIM# 610168 False 3 50;0;50 1.313 True ENSG00000163513 ENSG00000163513 HGNC:11773 TGIF1 gene TGIF1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, MIM# 142946;MONDO:0007734 10835638;16323008 False 3 100;0;0 1.313 True ENSG00000177426 ENSG00000177426 HGNC:11776 THOC2 gene THOC2 Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 12/35 MIM#300957;Arthrogryposis (MONDO:0008779), THOC2-related 26166480;32116545;29851191;32960281;34976470;37945483 False 3 100;0;0 1.313 True ENSG00000125676 ENSG00000125676 HGNC:19073 THOC6 gene THOC6 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Beaulieu-Boycott-Innes syndrome, MIM# 613680 23621916;26739162;27102954;30238602;30476144 False 3 100;0;0 1.313 True ENSG00000131652 ENSG00000131652 HGNC:28369 THRA gene THRA Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 22168587;22494134;25670821 False 3 100;0;0 1.313 True ENSG00000126351 ENSG00000126351 HGNC:11796 THSD1 gene THSD1 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 13, MIM# 620244 33569873;27895300 False 3 100;0;0 1.313 True ENSG00000136114 ENSG00000136114 HGNC:17754 TINF2 gene TINF2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Revesz syndrome, MIM# 268130 1404302;18252230;21477109 False 3 100;0;0 1.313 True ENSG00000092330 ENSG00000092330 HGNC:11824 TLK2 gene TLK2 Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Intellectual developmental disorder, autosomal dominant 57 - MIM#618050 29861108;31558842;34821460 False 3 100;0;0 1.313 True ENSG00000146872 ENSG00000146872 HGNC:11842 TLL1 gene TLL1 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 6 - MIM#613087;congenital heart disease 18830233;30538173;27418595;31570783 False 3 100;0;0 1.313 True ENSG00000038295 ENSG00000038295 HGNC:11843 TMCO1 gene TMCO1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 20018682;23320496;24194475;30556256;31102500 False 3 100;0;0 1.313 True ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM107 gene TMEM107 Expert Review;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 29, OMIM:617562;Orofaciodigital syndrome 16, MONDO:0033045;Meckel syndrome 13, MONDO:0033044;Orofaciodigital syndrome XVI, OMIM:617563;Meckel syndrome 13, OMIM:617562 26595381;26123494;26518474;23523602 False 3 50;50;0 1.313 True ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 22282472;28102635;27434533 False 3 100;0;0 1.313 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, MIM# 614727;TMEM165-CDG, MONDO:0013870 22683087;28323990;27401145;27008884;26238249;25609749 False 3 100;0;0 1.313 True ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;Meckel syndrome 2, OMIM:603194;Meckel syndrome, type 2, MONDO:0011296 20512146;20036350 False 3 50;0;50 1.313 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39 - MIM#619562 33791682;25161209 False 3 100;0;0 1.313 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 50;50;0 1.313 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 22152675 False 3 100;0;0 1.313 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM260 gene TMEM260 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, OMIM:617478;Structural heart defects and renal anomalies syndrome, MONDO:0044321 34612517;28318500 False 3 100;0;0 1.313 True ENSG00000070269 ENSG00000070269 HGNC:20185 TMEM38B gene TMEM38B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV, OMIM:615066;Osteogenesis imperfecta type 14, MONDO:0014029 23316006, 23054245, 26911354, 34902613 False 3 100;0;0 1.313 True ENSG00000095209 ENSG00000095209 HGNC:25535 TMEM5 gene TMEM5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 23217329;23519211;30017359;27733679;27212206 False 3 100;0;0 1.313 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361 16415887;17377820;17160906;19508969 False 3 100;0;0 1.313 True ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM94 gene TMEM94 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 PMID: 30526868 False 3 100;0;0 1.313 True ENSG00000177728 ENSG00000177728 HGNC:28983 TMEM98 gene TMEM98 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nanophthalmos 4, MONDO:0014426;Nanophthalmos 4, OMIM:615972 24852644;26392740 False 3 100;0;0 1.313 True ENSG00000006042 ENSG00000006042 HGNC:24529 TMTC3 gene TMTC3 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 (MIM#617255) 27773428;28973161 False 3 100;0;0 1.313 True ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887;Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 31586943;31735293;31270415 False 3 50;50;0 1.313 True ENSG00000213593 ENSG00000213593 HGNC:30739 TNFRSF11A gene TNFRSF11A Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 - MIM# 612301 18606301;32048120 False 3 100;0;0 1.313 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNNI2 gene TNNI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis multiplex congenita, distal, type 2B MIM#601680 17194691;25340332;12592607 False 3 100;0;0 1.313 True ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type, MIM# 605355 10952871;32994279;32819427;31970803;31604653;29931346;31680123 False 3 100;0;0 1.313 True ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2B2, OMIM:618435;Arthrogryposis, distal, type 2B2, MONDO:0032750 25337069;32779773;21402185;17194691;19142688;12865991 False 3 100;0;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 ENSG00000130595 ENSG00000130595 HGNC:11950 TOE1 gene TOE1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, OMIM:614969;Pontocerebellar hypoplasia type 7, MONDO:0013993 28092684 False 3 100;0;0 1.313 True ENSG00000132773 ENSG00000132773 HGNC:15954 TOP2B gene TOP2B Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 31409799 False 3 100;0;0 1.313 True ENSG00000077097 ENSG00000077097 HGNC:11990 TOP3A gene TOP3A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 30193137;30057030;33631320 False 3 100;0;0 1.313 True ENSG00000177302 ENSG00000177302 HGNC:11992 TOR1A gene TOR1A Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 5, OMIM:618947;Arthrogryposis multiplex congenita 5, MONDO:0100218 30244176;28516161;29053766 False 3 100;0;0 1.313 True ENSG00000136827 ENSG00000136827 HGNC:3098 TOR1AIP1 gene TOR1AIP1 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707;congenital myasthenic syndrome 33215087;32055997;24856141;31299614;30723199;27342937 False 3 100;0;0 1.313 True ENSG00000143337 ENSG00000143337 HGNC:29456 TP63 gene TP63 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADULT syndrome, OMIM #103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292;Hay-Wells syndrome, OMIM #106260;Limb-mammary syndrome, OMIM #603543;Orofacial cleft 8, OMIM #618149;Rapp-Hodgkin syndrome, OMIM #129400;Split-hand/foot malformation 4, OMIM #605289 False 3 50;0;50 1.313 True ENSG00000073282 ENSG00000073282 HGNC:15979 TP73 gene TP73 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466 31130284;34077761 False 3 100;0;0 1.313 True ENSG00000078900 ENSG00000078900 HGNC:12003 TPM2 gene TPM2 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, distal, type 1, 108120;Arthrogryposis, distal, type 2B, 601680;Multiple pterygium syndrome 12592607;17339586;30285720;27726070;24692096;33558124;32092148 False 3 100;0;0 1.313 True Other ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, congenital, with fiber-type disproportion, MIM# 255310 False 3 100;0;0 1.313 True ENSG00000143549 ENSG00000143549 HGNC:12012 TPO gene TPO Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A - MIM#274500 34220711;30662777 False 3 100;0;0 1.313 True ENSG00000115705 ENSG00000115705 HGNC:12015 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 26487268;18364699;21945076 False 3 100;0;0 1.313 True ENSG00000204104 ENSG00000204104 HGNC:17861 TRAF7 gene TRAF7 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 29961569;32376980 False 3 100;0;0 1.313 True Other - please provide details in the comments ENSG00000131653 ENSG00000131653 HGNC:20456 TRAIP gene TRAIP Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, MIM#616777 26595769 False 3 100;0;0 1.313 True ENSG00000183763 ENSG00000183763 HGNC:30764 TRAP1 gene TRAP1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal VACTERL;CAKUT 24152966 False 3 100;0;0 1.313 True ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC11 gene TRAPPC11 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 3 100;0;0 1.313 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC12 gene TRAPPC12 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hydrocephaly;Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669;Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 28777934;32347653 False 3 100;0;0 1.313 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC9 gene TRAPPC9 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual disability, autosomal recessive 13 (MIM# 613192) 22549410;20004765;20004763;30853973;29187737 False 3 100;0;0 1.313 True ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 33527515 False 3 100;0;0 1.313 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism, OMIM #253250 False 3 50;0;50 1.313 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM71 gene TRIM71 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus, congenital communicating, 1 - #618667 29983323;32168371;30975633 False 3 100;0;0 1.313 True ENSG00000206557 ENSG00000206557 HGNC:32669 TRIO gene TRIO Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 44, MIM# 617061 26721934;32109419 False 3 100;0;0 1.313 True ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP11 gene TRIP11 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Achondrogenesis, type IA, MIM# 200600 29872333;20089971;30728324;30518689 False 3 50;50;0 1.313 True ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP4 gene TRIP4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 26924529;27008887 False 3 100;0;0 1.313 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRIT1 gene TRIT1 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, MIM#617873 36049610;32088416 False 3 100;0;0 1.313 True ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10A gene TRMT10A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033;MONDO:0000208 24204302;25053765;33448213;33067246;26535115;26526202;26297882 False 3 100;0;0 1.313 True ENSG00000145331 ENSG00000145331 HGNC:28403 TRPV4 gene TRPV4 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachyolmia type 3, MIM# 113500;Metatropic dysplasia, MIM# 156530;SED, Maroteaux type, MIM# 184095;Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252 False 3 100;0;0 1.313 True ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, MIM#618188 32383311;31930989;29861107 False 3 100;0;0 1.313 True ENSG00000165125 ENSG00000165125 HGNC:14006 TRRAP gene TRRAP Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without dysmorphic facies and autism- #618454;multiple congenital anomalies 30827496 False 3 100;0;0 1.313 True ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, MIM# 191100 False 3 100;0;0 1.313 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 False 3 100;0;0 1.313 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN15 gene TSEN15 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F MIM#617026 27392077;30914295;25558065 False 3 100;0;0 1.313 True ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B (MIM#612389) 23562994;20952379;27392077 False 3 50;50;0 1.313 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 4, OMIM:225753;Pontocerebellar hypoplasia type 2A, OMIM:277470 16470708;20952379;20956791;20301773 False 3 100;0;0 1.313 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, MIM#610505 31267352 False 3 100;0;0 1.313 True ENSG00000123297 ENSG00000123297 HGNC:12367 TSHR gene TSHR Expert Review Green;Literature Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperthyroidism, nonautoimmune - MIM#609152;Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 23295291;9360555;7800007;18655531;15163335 False 3 100;0;0 1.313 True ENSG00000165409 ENSG00000165409 HGNC:12373 TTC21B gene TTC21B Expert list;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 29068549;25492405;21258341 False 3 67;0;33 1.313 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC25 gene TTC25 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35 (MIM#617092) 27486780;31765523;33715250;33746037;34215651 False 3 100;0;0 1.313 True ENSG00000204815 ENSG00000204815 HGNC:25280 TTC7A gene TTC7A Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150 24417819;24292712;23830146;29174094;31743734 False 3 100;0;0 1.313 True ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 14520415;19797195 False 3 100;0;0 1.313 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTI2 gene TTI2 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39 (MIM#615541);Microcephaly 32061250;23956177;31737043 False 3 100;0;0 1.313 True ENSG00000129696 ENSG00000129696 HGNC:26262 TTN gene TTN Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Salih myopathy;Muscular dystrophy, limb-girdle, autosomal recessive 10 24105469;31660661;29575618;28040389 False 3 100;0;0 1.313 True ENSG00000155657 ENSG00000155657 HGNC:12403 TUBA1A gene TUBA1A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, MIM# 611603 30517687;20466733 False 3 100;0;0 1.313 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, MIM#615771 23246003 False 3 100;0;0 1.313 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 28840640;30016746;25326637;27770045;24702957;32571897 False 3 100;0;0 1.313 True Other ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 19465910;22333901 False 3 100;0;0 1.313 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039 32573066;20829227;25059107;32169460;30272120 False 3 100;0;0 1.313 True ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, MIM# 602662 27809427 False 3 100;0;0 1.313 True ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412 27010057;23603762 False 3 100;0;0 1.313 True ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737" PMID: 31630790 False 3 100;0;0 1.313 True ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP4 gene TUBGCP4 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335 25817018 False 3 100;0;0 1.313 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 25344692;22279524 False 3 100;0;0 1.313 True ENSG00000128159 ENSG00000128159 HGNC:18127 TUFM gene TUFM Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, MIM #610678 26741492;17160893 False 3 50;50;0 1.313 True ENSG00000178952 ENSG00000178952 HGNC:12420 TWIST1 gene TWIST1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Craniosynostosis 1, MIM# 123100;Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400;Sweeny-Cox syndrome, MIM# 617746;Robinow-Sorauf syndrome, MIM# 180750" 17343269;9585583;12116251;31299755;30040876 False 3 100;0;0 1.313 True ENSG00000122691 ENSG00000122691 HGNC:12428 TWIST2 gene TWIST2 Expert Review Green;Genomics England PanelApp Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ablepharon-macrostomia syndrome, 200110;Barber-Say syndrome, 209885 26119818;20691403 False 3 100;0;0 1.313 True Other ENSG00000233608 ENSG00000233608 HGNC:20670 TXNDC15 gene TXNDC15 Expert Review;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, MIM# 619879 30851085;27894351 False 3 100;0;0 1.313 True ENSG00000113621 ENSG00000113621 HGNC:20652 TXNL4A gene TXNL4A Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572 25434003 False 3 100;0;0 1.313 True ENSG00000141759 ENSG00000141759 HGNC:30551 UBA1 gene UBA1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 3 100;0;0 1.313 True ENSG00000130985 ENSG00000130985 HGNC:12469 UBA2 gene UBA2 Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACCES syndrome, MIM# 619959;Split-Hand/Foot Malformation;Aplasia Cutis Congenita;Ectrodactyly PMID: 31332306;31587267;34159400 False 3 100;0;0 1.313 True ENSG00000126261 ENSG00000126261 HGNC:30661 UBE2T gene UBE2T Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group T, MIM# 616435 26046368;26085575;26119737 False 3 100;0;0 1.313 True ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3B gene UBE3B Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 23200864;23200864;34012380;32949109 False 3 100;0;0 1.313 True ENSG00000151148 ENSG00000151148 HGNC:13478 UBR1 gene UBR1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome (MIM#243800) 24599544 False 3 100;0;0 1.313 True ENSG00000159459 ENSG00000159459 HGNC:16808 UBR7 gene UBR7 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Li-Campeau syndrome - MIM#619189 33340455 False 3 100;0;0 1.313 True ENSG00000012963 ENSG00000012963 HGNC:20344 UMPS gene UMPS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Orotic aciduria MIM# 258900 9042911;33489760 False 3 100;0;0 1.313 True ENSG00000114491 ENSG00000114491 HGNC:12563 UQCC2 gene UQCC2 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 24385928;28804536 False 3 100;0;0 1.313 True ENSG00000137288 ENSG00000137288 HGNC:21237 UROS gene UROS Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic - MIM#263700;hydrops fetalis;multiple congenital anomalies 34187847;34828434;15065102 False 3 100;0;0 1.313 True ENSG00000188690 ENSG00000188690 HGNC:12592 USP14 gene USP14 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related;Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features PMID: 35066879;38469793 False 3 50;0;50 1.313 True ENSG00000101557 ENSG00000101557 HGNC:12612 USP18 gene USP18 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, MIM#617397 27325888;12833411;31940699 False 3 67;0;33 1.313 True ENSG00000184979 ENSG00000184979 HGNC:12616 USP9X gene USP9X Expert Review Green;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 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 31443933;26833328 False 3 100;0;0 1.313 True ENSG00000124486 ENSG00000124486 HGNC:12632 VAMP1 gene VAMP1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, MIM# 618323 28600779;28168212;28253535 False 3 50;0;50 1.313 True ENSG00000139190 ENSG00000139190 HGNC:12642 VIPAS39 gene VIPAS39 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404 20190753 False 3 100;0;0 1.313 True ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050 16080122;18326629;10380922 False 3 100;0;0 1.313 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS33B gene VPS33B Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) 31240160;31777725;24415890;15052268;30561130 False 3 100;0;0 1.313 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS4A gene VPS4A Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 PMID: 33186543;33186545 False 3 100;0;0 1.313 True ENSG00000132612 ENSG00000132612 HGNC:13488 VPS53 gene VPS53 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, OMIM #615851 12920088;24577744;30100179 False 3 100;0;0 1.313 True ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A MIM#607596 19646678;24126608;27281532;31560180 False 3 100;0;0 1.313 True ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, MIM# 610092;Microphthalmia, isolated 2, MIM# 610093 15257456;17661825;31884615;28121235;27301076;24033328 False 3 100;0;0 1.313 True ENSG00000119614 ENSG00000119614 HGNC:1975 WASHC5 gene WASHC5 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome 1, MIM# 220210 24065355 False 3 33;33;33 1.313 True ENSG00000164961 ENSG00000164961 HGNC:28984 WBP11 gene WBP11 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral, cardiac, tracheoesophageal, renal, and limb defects, #MIM:619227 33276377 False 3 100;0;0 1.313 True ENSG00000084463 ENSG00000084463 HGNC:16461 WBP4 gene WBP4 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, WBP4-related PMID: 37425688 False 3 100;0;0 1.313 True ENSG00000120688 ENSG00000120688 HGNC:12739 WDPCP gene WDPCP Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0 Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 1.313 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307;Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376;Cranioectodermal dysplasia 4, MIM# 614378 33946315;33875766;33606107;22019273;23559409;23683095;32055034 False 3 50;0;50 1.313 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 24183449;24183451;30649997;29241935;28379358 False 3 50;0;50 1.313 True ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569 21473986 False 3 100;0;0 1.313 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR37 gene WDR37 Expert list;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome MIM#618652 PMID: 31327508, 31327510 False 3 100;0;0 1.313 True ENSG00000047056 ENSG00000047056 HGNC:31406 WDR4 gene WDR4 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth deficiency, seizures, and brain malformations, OMIM # 618346 PubMed: 26416026;28617965 False 3 100;0;0 1.313 True ENSG00000160193 ENSG00000160193 HGNC:12756 WDR44 gene WDR44 Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related PMID: 38191484 False 3 100;0;0 1.313 True ENSG00000131725 ENSG00000131725 HGNC:30512 WDR60 gene WDR60 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 23910462;29271569;26874042 False 3 100;0;0 1.313 True ENSG00000126870 ENSG00000126870 HGNC:21862 WDR62 gene WDR62 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 1.313 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, MIM#251300 25466283;26123727;25873735;26070982;30315938 False 3 100;0;0 1.313 True ENSG00000177082 ENSG00000177082 HGNC:25928 WLS gene WLS Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, MIM#619648 34587386 False 3 100;0;0 1.313 True ENSG00000116729 ENSG00000116729 HGNC:30238 WNT1 gene WNT1 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, OMIM:615220 26671912;23499309;23434763 False 3 50;50;0 1.313 True ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, OMIM:225300 20635353;24211389;27321946 False 3 100;0;0 1.313 True ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1;OMIM# 180700 17256787 False 3 100;0;0 1.313 True ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Fuhrmann syndrome, MIM# 228930;Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 21344627;20949531;16826533 False 3 100;0;0 1.313 True ENSG00000154764 ENSG00000154764 HGNC:12786 WNT7B gene WNT7B Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome;Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related 35790350 False 3 100;0;0 1.313 True ENSG00000188064 ENSG00000188064 HGNC:12787 WT1 gene WT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome, MIM# 194080;Frasier syndrome, MIM#136680 False 3 100;0;0 1.313 True ENSG00000184937 ENSG00000184937 HGNC:12796 WWOX gene WWOX Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 28, MIM# 616211 33916893 False 3 100;0;0 1.313 True ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC4 gene XRCC4 Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, MIM#616541 25839420;25728776 False 3 100;0;0 1.313 True ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM# 615777;Baratela-Scott syndrome 30554721;24581741;23982343;22711505 False 3 100;0;0 1.313 True ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert list;Expert Review Green;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome MIM# 605822 26027496;26987875;30891060;28484880 False 3 100;0;0 1.313 True ENSG00000015532 ENSG00000015532 HGNC:15517 YAP1 gene YAP1 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 24462371;27267789;28801591 False 3 50;50;0 1.313 True ENSG00000137693 ENSG00000137693 HGNC:16262 YIF1B gene YIF1B Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, MIM# 619125 PMID: 32006098;26077767 False 3 100;0;0 1.313 True ENSG00000167645 ENSG00000167645 HGNC:30511 YIPF5 gene YIPF5 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 PMID: 33164986 False 3 100;0;0 1.313 True ENSG00000145817 ENSG00000145817 HGNC:24877 YRDC gene YRDC Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 10, OMIM # 619609 PMID: 31481669;34545459 False 3 100;0;0 1.313 True ENSG00000196449 ENSG00000196449 HGNC:28905 YY1 gene YY1 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome, OMIM #617557 28575647 False 3 100;0;0 1.313 True ENSG00000100811 ENSG00000100811 HGNC:12856 ZBTB18 gene ZBTB18 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 22, MIM# 612337;Intellectual disability;microcephaly;corpus callosum abnormalities 29573576 False 3 100;0;0 1.313 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome, MIM# 259050 25017102;27061120;30256248 False 3 100;0;0 1.313 True ENSG00000181722 ENSG00000181722 HGNC:13503 ZBTB24 gene ZBTB24 Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 32865561;21596365;29023266;32061411;21906047;28128455;23739126;22786748 False 3 100;0;0 1.313 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZC4H2 gene ZC4H2 Expert Review Green;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) Wieacker-Wolff syndrome, OMIM#314580;Wieacker-Wolff syndrome, female-restricted, OMIM#301041 30712880;23623388;31885220;23623388;34322088;33949289;31885220;31206972 False 3 100;0;0 1.313 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZEB2 gene ZEB2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 29300384 False 3 100;0;0 1.313 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFP57 gene ZFP57 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Diabetes mellitus, transient neonatal 1, OMIM #601410 False 3 50;0;50 1.313 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZFPM2 gene ZFPM2 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diaphragmatic hernia 3 - MIM#610187;Tetralogy of Fallot - MIM# 187500" 16103912;17568391;24702427;10892744;21919901;14517948 False 3 100;0;0 1.313 True ENSG00000169946 ENSG00000169946 HGNC:16700 ZIC1 gene ZIC1 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Structural brain anomalies with impaired intellectual development and craniosynostosis;OMIM#618736 26340333, 30391508 False 3 50;50;0 1.313 True ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, OMIM #609637;MONDO:0012322 20531442;9771712;11285244 False 3 100;0;0 1.313 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955;Heterotaxy, visceral, 1, X-linked, MIM#306955;VACTERL association, X-linked, MIM#314390 21465648;20452998;26294094;27406248;30120289 False 3 100;0;0 1.313 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMIZ1 gene ZMIZ1 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - MIM#618659 30639322;31879022 False 3 100;0;0 1.313 True ENSG00000108175 ENSG00000108175 HGNC:16493 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612;MONDO:0012074;Restrictive dermopathy, lethal, MIM# 275210;MONDO:0010143 11923874;22718200;29794150;29208544;12913070;27410998;27409638;15937076;16671095;22718200;29794150;24169522 False 3 100;0;0 1.313 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYM2 gene ZMYM2 Expert list;Expert Review Green;Literature Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522 32891193 False 3 100;0;0 1.313 True ENSG00000121741 ENSG00000121741 HGNC:12989 ZMYND10 gene ZMYND10 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, MIM#615444 23891471;23891469 False 3 100;0;0 1.313 True ENSG00000004838 ENSG00000004838 HGNC:19412 ZMYND8 gene ZMYND8 Expert Review;Expert Review Green Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related;Delayed speech and language development;Motor delay;Intellectual disability;Abnormality of cardiovascular system morphology;Hearing abnormality;Abnormality of vision;Abnormality of the face;Seizures 35916866;32530565 False 3 100;0;0 1.313 True ENSG00000101040 ENSG00000101040 HGNC:9397 ZNF335 gene ZNF335 Expert Review;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive (MIM#615095) 23178126;27540107;29652087;34982360 False 3 100;0;0 1.313 True ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF462 gene ZNF462 Expert list;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weiss-Kruszka syndrome;OMIM#618619 31361404;28513610 False 3 100;0;0 1.313 True ENSG00000148143 ENSG00000148143 HGNC:21684 ZNF526 gene ZNF526 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 PMID: 33397746, 21937992, 25558065, False 3 100;0;0 1.313 True ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF699 gene ZNF699 Expert list;Expert Review Green;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal DEGCAGS syndrome - #619488 33875846 False 3 100;0;0 1.313 True ENSG00000196110 ENSG00000196110 HGNC:24750 ZNHIT3 gene ZNHIT3 Expert list;Expert Review Green Fetal anomalies BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 PMID: 28335020;28335020;31048081 False 3 100;0;0 1.313 True ENSG00000108278 ENSG00000273611 HGNC:12309 ZRSR2 gene ZRSR2 Expert Review Green;Literature Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 PMID: 38158857 False 3 100;0;0 1.313 True ENSG00000169249 ENSG00000169249 HGNC:23019 ZSWIM6 gene ZSWIM6 Expert Review;Expert Review Green;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis (MIM#603671) 25105228;28213462;29198722 False 3 67;33;0 1.313 True ENSG00000130449 ENSG00000130449 HGNC:29316 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 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000196839 ENSG00000196839 HGNC:186 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000148218 ENSG00000148218 HGNC:395 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000101935 ENSG00000101935 HGNC:467 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000149970 ENSG00000149970 HGNC:19701 COL4A3BP gene COL4A3BP Expert Review Red;Genomics England PanelApp Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 34, MIM# 616351 25533962 False 1 0;0;100 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000183914 ENSG00000183914 HGNC:2948 DNAH8 gene DNAH8 Expert Review Red;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 31178125;24307375;32619401;32681648 False 1 0;0;100 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000187790 ENSG00000187790 HGNC:23168 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNB5 gene GNB5 Expert list;Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, 617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182;Early infantile epileptic encephalopathy (EIEE) 27523599;27677260;28697420;29368331 False 1 0;0;100 1.313 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 1.313 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 1.313 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPKOW gene GPKOW Expert Review Red;Genomics England PanelApp Fetal anomalies X-LINKED: hemizygous mutation in males, biallelic mutations in females male-lethal microcephaly with intrauterine growth restriction 28612833 False 1 0;0;100 1.313 True ENSG00000068394 ENSG00000068394 HGNC:30677 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 1.313 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 1.313 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 1.313 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 1.313 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 XL intellectual disability 28414775 False 1 0;0;100 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 0;0;100 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000235718 ENSG00000235718 HGNC:18121 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000115204 ENSG00000115204 HGNC:7224 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000128050 ENSG00000128050 HGNC:8587 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000121350 ENSG00000121350 HGNC:26162 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC6A17 gene SLC6A17 Expert Review Red;Genomics England PanelApp Fetal anomalies BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 48, MIM# 616269" False 1 0;0;100 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000105329 ENSG00000105329 HGNC:11766 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 1.313 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 1.313 True ENSG00000166548 ENSG00000166548 HGNC:11831 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 1.313 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 1.313 True ENSG00000168477 ENSG00000168477 HGNC:11976 TOGARAM1 gene TOGARAM1 Expert Review Red;Genomics England PanelApp;Literature Fetal anomalies BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis;Cleft of the lip and palate;Hydrocephalus;Microphthalmia 32747439 False 1 0;0;100 1.313 True ENSG00000198718 ENSG00000198718 HGNC:19959 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 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 1.313 True ENSG00000147180 ENSG00000147180 HGNC:13128