Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AAAS gene AAAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 50;0;50 6.185 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS2 gene AARS2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889;Combined oxidative phosphorylation deficiency 8, OMIM:614096;fetal hydrops;cardiomyopathy;polyhydramnios;pulmonary effusion 30819764;28822227;21549344 False 3 100;0;0 6.185 False Other ENSG00000124608 ENSG00000124608 HGNC:21022 ABCA12 gene ABCA12 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 242500 False 3 100;0;0 6.185 False ENSG00000144452 ENSG00000144452 HGNC:14637 ABCC6 gene ABCC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 False 3 100;0;0 6.185 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC9 gene ABCC9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA False 3 100;0;0 6.185 False ENSG00000069431 ENSG00000069431 HGNC:60 ABHD5 gene ABHD5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHANARIN-DORFMAN SYNDROME False 3 100;0;0 6.185 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABI2 gene ABI2 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities False 3 100;0;0 6.185 False ENSG00000138443 ENSG00000138443 HGNC:24011 ABL1 gene ABL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations, OMIM:617602;Congenital heart defects and skeletal malformations syndrome, MONDO:0060532 False 3 50;50;0 6.185 False ENSG00000097007 ENSG00000097007 HGNC:76 ACAD9 gene ACAD9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 26475292 False 3 100;0;0 6.185 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADVL gene ACADVL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAN gene ACAN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY;SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE False 3 50;50;0 6.185 False ENSG00000157766 ENSG00000157766 HGNC:319 ACBD6 gene ACBD6 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 37951597;36457943;34296759 False 3 100;0;0 6.185 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACE gene ACE Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis 267430 30058238 False 3 100;0;0 6.185 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACOX1 gene ACOX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADRENOLEUKODYSTROPHY PSEUDONEONATAL;Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 False 3 100;0;0 6.185 False ENSG00000161533 ENSG00000161533 HGNC:119 ACP5 gene ACP5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION False 3 100;0;0 6.185 False ENSG00000102575 ENSG00000102575 HGNC:124 ACTA1 gene ACTA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 30266093 False 3 100;0;0 6.185 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTA2 gene ACTA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AORTIC ANEURYSM, FAMILIAL THORACIC 6;MOYAMOYA DISEASE 5 False 3 100;0;0 6.185 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTB gene ACTB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BARAITSER-WINTER SYNDROME;ACTB Haploinsufficiency syndtome False 3 100;0;0 6.185 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 5 612794 24461919 False 3 100;0;0 6.185 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG1 gene ACTG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME False 3 100;0;0 6.185 False ENSG00000184009 ENSG00000184009 HGNC:144 ACTG2 gene ACTG2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Visceral myopathy 155310;Fetal Megacystis 25998219;30712878;31070878 False 3 100;0;0 6.185 False Other ENSG00000163017 ENSG00000163017 HGNC:145 ACVR1 gene ACVR1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva, OMIM:135100 16642017;29089047 False 3 50;50;0 6.185 False ENSG00000115170 ENSG00000115170 HGNC:171 ACVRL1 gene ACVRL1 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376 21988128;26126400;27381467;32170914 False 3 50;50;0 6.185 False ENSG00000139567 ENSG00000139567 HGNC:175 ACY1 gene ACY1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AMINOACYLASE-1 DEFICIENCY False 3 100;0;0 6.185 False ENSG00000243989 ENSG00000243989 HGNC:177 ADAMTS10 gene ADAMTS10 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive 277600 False 3 100;0;0 6.185 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS15 gene ADAMTS15 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 12, OMIM:620545 35962790 False 3 100;0;0 6.185 False ENSG00000166106 ENSG00000166106 HGNC:16305 ADAMTS17 gene ADAMTS17 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani 4 syndrome, recessive, 613195 19836009;22486325;24940034;30712880 False 3 100;0;0 6.185 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTS3 gene ADAMTS3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154;Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 28985353;30450763 False 3 100;0;0 6.185 False ENSG00000156140 ENSG00000156140 HGNC:219 ADAMTSL2 gene ADAMTSL2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1 231050 False 3 100;0;0 6.185 False ENSG00000197859 ENSG00000197859 HGNC:14631 ADAR gene ADAR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 False 3 100;0;0 6.185 False ENSG00000160710 ENSG00000160710 HGNC:225 ADAT3 gene ADAT3 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 False 3 100;0;0 6.185 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADCY6 gene ADCY6 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 8, OMIM:616287;MONDO:0014570 33820833;26257172;24319099;31846058 False 3 100;0;0 6.185 False ENSG00000174233 ENSG00000174233 HGNC:237 ADD1 gene ADD1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ADD1-related 34906466 False 3 100;0;0 6.185 False ENSG00000087274 ENSG00000087274 HGNC:243 ADGRG1 gene ADGRG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA False 3 100;0;0 6.185 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG6 gene ADGRG6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LETHAL CONGENITAL CONTRACTURE SYNDROME 9 False 3 100;0;0 6.185 False ENSG00000112414 ENSG00000112414 HGNC:13841 ADNP gene ADNP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 False 3 100;0;0 6.185 False ENSG00000101126 ENSG00000101126 HGNC:15766 ADSL gene ADSL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADENYLOSUCCINASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000239900 ENSG00000239900 HGNC:291 AFF3 gene AFF3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, OMIM:619297 31388108;33961779 False 3 67;33;0 6.185 False ENSG00000144218 ENSG00000144218 HGNC:6473 AFF4 gene AFF4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE-LIKE SYNDROME False 3 100;0;0 6.185 False ENSG00000072364 ENSG00000072364 HGNC:17869 AGK gene AGK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SENGERS SYNDROME False 3 100;0;0 6.185 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE TYPE III False 3 100;0;0 6.185 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 False 3 100;0;0 6.185 False ENSG00000018510 ENSG00000018510 HGNC:327 AGRN gene AGRN Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence, MONDO:0008824;Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 31730230;39807604 False 3 60;0;40 6.185 False ENSG00000188157 ENSG00000188157 HGNC:329 AGT gene AGT Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, OMIM:267430 34234805;28976722;16116425;39641285;33163725 False 3 60;40;0 6.185 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, OMIM:267430 16116425;22095942 False 3 100;0;0 6.185 False ENSG00000144891 ENSG00000144891 HGNC:336 AHCY gene AHCY Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal hydrops;S-adenosylhomocysteine hydrolase deficiency;Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 30121674;20852937;31957987 False 3 50;50;0 6.185 False ENSG00000101444 ENSG00000101444 HGNC:343 AHDC1 gene AHDC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown XIA-GIBBS SYNDROME False 3 100;0;0 6.185 False ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME False 3 100;0;0 6.185 False ENSG00000135541 ENSG00000135541 HGNC:21575 AKT1 gene AKT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PROTEUS SYNDROME 33030203 False 3 100;0;0 6.185 False ENSG00000142208 ENSG00000142208 HGNC:391 AKT2 gene AKT2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 21979934;24285683;28502730 False 3 100;0;0 6.185 False ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 False 3 100;0;0 6.185 False Other ENSG00000117020 ENSG00000117020 HGNC:393 AL117258.1 gene AL117258.1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 12, autosomal, OMIM:619702 34903892;39513328 False 3 100;0;0 6.185 False - ENSG00000283654 HGNC:53647 ALDH18A1 gene ALDH18A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal CUTIS LAXA, AUTOSOMAL DOMINANT 3;SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT;MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES False 3 100;0;0 6.185 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A2 gene ALDH1A2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025 33565183;36263470 False 3 100;0;0 6.185 False ENSG00000128918 ENSG00000128918 HGNC:15472 ALDH1A3 gene ALDH1A3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ANOPHTHALMIA/MICROPHTHALMIA False 3 100;0;0 6.185 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDH3A2 gene ALDH3A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SJOEGREN-LARSSON SYNDROME False 3 100;0;0 6.185 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH7A1 gene ALDH7A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PYRIDOXINE-DEPENDENT EPILEPSY False 3 100;0;0 6.185 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE XII False 3 100;0;0 6.185 False ENSG00000149925 ENSG00000149925 HGNC:414 ALG1 gene ALG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALG1-CDG False 3 100;0;0 6.185 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG12 gene ALG12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G False 3 100;0;0 6.185 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227;Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036 34971077;23404334;28733338;30221345 False 3 100;0;0 6.185 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALG2-CDG False 3 50;50;0 6.185 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALG3 gene ALG3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALG3-CDG 16006436 False 3 100;0;0 6.185 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALG6-CDG False 3 100;0;0 6.185 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALG8-CDG False 3 100;0;0 6.185 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Gillessen-Kaesbach-Nishimura syndrome, 263210;AR lethal skeletal dysplasia;ALG9-CDG;Congenital disorder of glycosylation, type Il, 608776;NIHF;hydops fetalis 26453364;31420886;28932688;25966638 False 3 67;33;0 6.185 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALSTROM SYNDROME False 3 100;0;0 6.185 False ENSG00000116127 ENSG00000116127 HGNC:428 ALOX12B gene ALOX12B Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, 242100 False 3 100;0;0 6.185 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, 606545 False 3 100;0;0 6.185 False ENSG00000179148 ENSG00000179148 HGNC:13743 ALPK3 gene ALPK3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, OMIM:618052 26846950;28630369 False 3 100;0;0 6.185 False ENSG00000136383 ENSG00000136383 HGNC:17574 ALPL gene ALPL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500 False 3 100;0;0 6.185 False ENSG00000162551 ENSG00000162551 HGNC:438 ALX1 gene ALX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRONTONASAL DYSPLASIA TYPE 3 False 3 100;0;0 6.185 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRONTONASAL DYSPLASIA TYPE 1 False 3 100;0;0 6.185 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal FRONTONASAL DYSPLASIA 2;PARIETAL FORAMINA 2 False 3 100;0;0 6.185 False ENSG00000052850 ENSG00000052850 HGNC:450 AMACR gene AMACR Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, 614307 False 3 100;0;0 6.185 False ENSG00000242110 ENSG00000242110 HGNC:451 AMER1 gene AMER1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 28425981 False 3 100;0;0 6.185 False ENSG00000184675 ENSG00000184675 HGNC:26837 AMMECR1 gene AMMECR1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 False 3 100;0;0 6.185 False ENSG00000101935 ENSG00000101935 HGNC:467 AMOTL1 gene AMOTL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofaciocardiohepatic syndrome, OMIM:621192;craniofaciocardiohepatic syndrome, MONDO:0978295 36751037 False 3 100;0;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166025 ENSG00000166025 HGNC:17811 AMPD2 gene AMPD2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA False 3 100;0;0 6.185 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLYCINE ENCEPHALOPATHY False 3 100;0;0 6.185 False ENSG00000145020 ENSG00000145020 HGNC:473 ANAPC1 gene ANAPC1 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson Syndrome Type 1 31303264 False 3 100;0;0 6.185 False ENSG00000153107 ENSG00000153107 HGNC:19988 ANGPT2 gene ANGPT2 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal hydrops fetalis, MONDO:0015193;Lymphatic malformation 10, OMIM:619369;lymphatic malformation 10, MONDO:0023662 32908006;34876502 False 3 100;0;0 6.185 False ENSG00000091879 ENSG00000091879 HGNC:485 ANKH gene ANKH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHONDROCALCINOSIS 2;CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE False 3 100;0;0 6.185 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKLE2 gene ANKLE2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 16, primary, autosomal recessive, OMIM:616681 31735666;25259927;30214071 False 3 67;33;0 6.185 False ENSG00000176915 ENSG00000176915 HGNC:29101 ANKRD11 gene ANKRD11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KBG SYNDROME False 3 100;0;0 6.185 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANKS6 gene ANKS6 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, 615382 False 3 100;0;0 6.185 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 False 3 100;0;0 6.185 False ENSG00000011201 ENSG00000011201 HGNC:6211 ANTXR1 gene ANTXR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, OMIM:230740 False 3 100;0;0 6.185 False ENSG00000169604 ENSG00000169604 HGNC:21014 ANTXR2 gene ANTXR2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome 228600 30176098;14508707;20301698 False 3 50;50;0 6.185 False ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S2 gene AP1S2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 False 3 100;0;0 6.185 False ENSG00000182287 ENSG00000182287 HGNC:560 AP4B1 gene AP4B1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 24781758;24700674;32166732;31525725;32171285;22290197;21620353;32979048 False 3 67;33;0 6.185 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401 False 3 100;0;0 6.185 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4S1 gene AP4S1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, OMIM:614067 30283821;25552650;31915823;27444738;32216065;21620353;32979048 False 3 67;33;0 6.185 False ENSG00000100478 ENSG00000100478 HGNC:575 APC2 gene APC2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677 31585108 False 3 100;0;0 6.185 False ENSG00000115266 ENSG00000115266 HGNC:24036 AR gene AR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ANDROGEN INSENSITIVITY SYNDROME False 3 100;0;0 6.185 False ENSG00000169083 ENSG00000169083 HGNC:644 ARCN1 gene ARCN1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephalic dwarfism;Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 27476655 False 3 100;0;0 6.185 False ENSG00000095139 ENSG00000095139 HGNC:649 ARF3 gene ARF3 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, brain abnormality False 3 100;0;0 6.185 False ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF2 gene ARFGEF2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly, OMIM:608097 False 3 50;50;0 6.185 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARHGAP29 gene ARHGAP29 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cleft lip with or without cleft palate;Cleft palate 28029220;27033726 False 3 100;0;0 6.185 False ENSG00000137962 ENSG00000137962 HGNC:30207 ARHGAP31 gene ARHGAP31 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COFFIN-SIRIS SYNDROME False 3 100;0;0 6.185 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 12;COFFIN SIRIS SYNDROME False 3 100;0;0 6.185 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 6, OMIM:617808 28884947;26238514;35813374;30838730;28124119;29698805 False 3 67;33;0 6.185 False ENSG00000189079 ENSG00000189079 HGNC:18037 ARL13B gene ARL13B Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, 612291 18674751;25138100;29255182 False 3 100;0;0 6.185 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL2BP gene ARL2BP Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434;Situs Inversus 27790702;36507858;23849777;38649918;40384762 False 3 100;0;0 6.185 False ENSG00000102931 ENSG00000102931 HGNC:17146 ARL3 gene ARL3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:618161 30269812;16565502 False 3 100;0;0 6.185 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 3;RETINITIS PIGMENTOSA TYPE 55 False 3 100;0;0 6.185 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARL6IP1 gene ARL6IP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, OMIM:615685 39954331 False 3 100;0;0 6.185 False ENSG00000170540 ENSG00000170540 HGNC:697 ARMC4 gene ARMC4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 23 False 3 100;0;0 6.185 False ENSG00000169126 ENSG00000169126 HGNC:25583 ARMC9 gene ARMC9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30 False 3 100;0;0 6.185 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARSA gene ARSA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARYLSULFATASE A DEFICIENCY False 3 100;0;0 6.185 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 6 False 3 100;0;0 6.185 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females CHONDRODYSPLASIA PUNCTATA 1, X-LINKED False 3 100;0;0 6.185 False ENSG00000157399 ENSG00000157399 HGNC:719 ARX gene ARX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females PARTINGTON SYNDROME;MENTAL RETARDATION X-LINKED ARX-RELATED;LISSENCEPHALY X-LINKED TYPE 2;AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA;EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 False 3 100;0;0 6.185 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY;FARBER LIPOGRANULOMATOSIS False 3 100;0;0 6.185 False ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal spinal muscular atrophy;arthrogryposis;fetal akinesia;hypotonia;contractures 26924529;30327447;28749478 False 3 100;0;0 6.185 False ENSG00000138303 ENSG00000138303 HGNC:24268 ASNS gene ASNS Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency 615574 False 3 100;0;0 6.185 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CANAVAN DISEASE False 3 100;0;0 6.185 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, OMIM:608716 False 3 100;0;0 6.185 False ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CITRULLINEMIA TYPE I False 3 100;0;0 6.185 False ENSG00000130707 ENSG00000130707 HGNC:758 ASXL1 gene ASXL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bohring-Opitz syndrome, OMIM:605039;Bohring-Opitz syndrome, MONDO:0011510 False 3 100;0;0 6.185 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shashi-Pena syndrome, OMIM:617190 27693232;33751773 False 3 50;50;0 6.185 False ENSG00000143970 ENSG00000143970 HGNC:23805 ASXL3 gene ASXL3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome, OMIM:615485 38420660;33820833;32565546;29316359 False 3 50;50;0 6.185 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD1 gene ATAD1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, OMIM:618011 29390050;29659736;28180185 False 3 100;0;0 6.185 False ENSG00000138138 ENSG00000138138 HGNC:25903 ATAD3A gene ATAD3A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy;Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 27640307;28327206;28158749;32004445;33575671;28549128;29053797;31727539;32607449;33845882 False 3 100;0;0 6.185 False 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 ATG7 gene ATG7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 17726112;16625205;34161705 False 3 100;0;0 6.185 False ENSG00000197548 ENSG00000197548 HGNC:16935 ATIC gene ATIC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AICA-RIBOSURIA False 3 100;0;0 6.185 False ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 30827498;34212383 False 3 100;0;0 6.185 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A2 gene ATP1A2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal hydrops fetalis;microcephaly;arthrogryposis;extensive cortical malformations 30690204;31608932 False 3 50;50;0 6.185 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP5O gene ATP5O Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 35621276 False 3 100;0;0 6.185 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP6V0A2 gene ATP6V0A2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Wrinkly skin syndrome 219200;Cutis laxa, autosomal recessive, type IIA False 3 100;0;0 6.185 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENKES DISEASE;OCCIPITAL HORN SYNDROME;SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 23035047 False 3 100;0;0 6.185 False ENSG00000165240 ENSG00000165240 HGNC:869 ATR gene ATR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, OMIM:210600;Seckel syndrome 1, MONDO:0008869 False 3 50;50;0 6.185 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1;ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE False 3 100;0;0 6.185 False ENSG00000085224 ENSG00000085224 HGNC:886 B3GALNT2 gene B3GALNT2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 False 3 50;50;0 6.185 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1;EHLERS-DANLOS SYNDROME False 3 100;0;0 6.185 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 False 3 100;0;0 6.185 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PETERS-PLUS SYNDROME 261540 29096039 False 3 100;0;0 6.185 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT7 gene B4GALT7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME PROGEROID TYPE False 3 100;0;0 6.185 False ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 23877401;23359570 False 3 100;0;0 6.185 False ENSG00000174684 ENSG00000174684 HGNC:15685 B9D1 gene B9D1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, MONDO:0014927;Joubert syndrome 27, OMIM:617120 32622957;24886560 False 3 40;60;0 6.185 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D2 gene B9D2 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 3 100;0;0 6.185 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBIP1 gene BBIP1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM #615995 False 3 100;0;0 6.185 False ENSG00000214413 ENSG00000214413 HGNC:28093 BBS1 gene BBS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 False 3 100;0;0 6.185 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 10 False 3 100;0;0 6.185 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 12 False 3 100;0;0 6.185 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 4 28425981 False 3 100;0;0 6.185 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 5 False 3 100;0;0 6.185 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 7 False 3 100;0;0 6.185 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 9 False 3 100;0;0 6.185 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCAP31 gene BCAP31 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS False 3 100;0;0 6.185 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCL11A gene BCL11A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000119866 ENSG00000119866 HGNC:13221 BCOR gene BCOR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA SYNDROMIC TYPE 2 False 3 100;0;0 6.185 False ENSG00000183337 ENSG00000183337 HGNC:20893 BCS1L gene BCS1L Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GRACILE SYNDROME;GRACILE syndrome, 603358 30712880 False 3 100;0;0 6.185 False ENSG00000074582 ENSG00000074582 HGNC:1020 BFSP2 gene BFSP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED False 3 100;0;0 6.185 False ENSG00000170819 ENSG00000170819 HGNC:1041 BGN gene BGN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe syndromic form of thoracic aortic aneurysm & dissection;X-Linked Spondyloepimetaphyseal Dysplasia;Meester-Loeys syndrome, 300989;Spondyloepimetaphyseal dysplasia, X-linked, 300106 27236923;27632686 False 3 50;50;0 6.185 False ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Camptosynpolydactyly, complex, OMIM:607539;Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432;SPLIT HAND AND FOOT MALFORMATION;MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE False 3 100;0;0 6.185 False ENSG00000205899 ENSG00000205899 HGNC:35126 BICD2 gene BICD2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291;arthrogryposis multiplex congenita (AMC);reduced fetal movements;hydrops fetalis;Pterygium 27751653;29274205;28635954;30054298 False 3 50;0;50 6.185 False Other ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CENTRONUCLEAR MYOPATHY 2 False 3 100;0;0 6.185 False ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 False 3 100;0;0 6.185 False ENSG00000197299 ENSG00000197299 HGNC:1058 BMP1 gene BMP1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta type XIII 614856 28513615 False 3 100;0;0 6.185 False ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, palatal anomalies, congenital heart disease, and skeletal malformations;Brachydactyly, type A2 112600 False 3 100;0;0 6.185 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, SYNDROMIC 6;OROFACIAL CLEFT 11 False 3 100;0;0 6.185 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPER gene BMPER Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DIAPHANOSPONDYLODYSOSTOSIS False 3 100;0;0 6.185 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, OMIM:609441 False 3 100;0;0 6.185 False ENSG00000138696 ENSG00000138696 HGNC:1077 BNC2 gene BNC2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lower urinary tract obstruction, congenital, 618612 False 3 100;0;0 6.185 False ENSG00000173068 ENSG00000173068 HGNC:30988 BORCS5 gene BORCS5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, brain malformations 40385417 False 3 100;0;0 6.185 False ENSG00000165714 ENSG00000165714 HGNC:17950 BRAF gene BRAF Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME;LEOPARD SYNDROME TYPE 3;NOONAN SYNDROME TYPE 7 False 3 100;0;0 6.185 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 23035047 False 3 100;0;0 6.185 False ENSG00000106009 ENSG00000106009 HGNC:21701 BRCA1 gene BRCA1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group S, OMIM:617883 29712865;29133208;34680915 False 3 67;0;33 6.185 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 False 3 50;50;0 6.185 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 6, OMIM:620568 34035299;30302754;29379197;11997514 False 3 100;0;0 6.185 False ENSG00000141867 ENSG00000141867 HGNC:13575 BRF1 gene BRF1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome, OMIM:616202 27748960;25561519 False 3 67;33;0 6.185 False ENSG00000185024 ENSG00000185024 HGNC:11551 BRF2 gene BRF2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Syndromic immunodeficiency and developmental disorders False 3 100;0;0 6.185 False ENSG00000104221 ENSG00000104221 HGNC:17298 BRIP1 gene BRIP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 False 3 100;0;0 6.185 False ENSG00000136492 ENSG00000136492 HGNC:20473 BRPF1 gene BRPF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRPF1 associated syndromic intellectual disability with ptosis False 3 100;0;0 6.185 False ENSG00000156983 ENSG00000156983 HGNC:14255 BSND gene BSND Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARTTER SYNDROME TYPE 4A False 3 100;0;0 6.185 False ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BIOTINIDASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000169814 ENSG00000169814 HGNC:1122 BUB1B gene BUB1B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000156970 ENSG00000156970 HGNC:1149 C11orf70 gene C11orf70 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, OMIM:618063 29727693;29727692 False 3 100;0;0 6.185 False ENSG00000137691 ENSG00000137691 HGNC:28188 C12orf57 gene C12orf57 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, OMIM:218340 31853307;29383837 False 3 67;33;0 6.185 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 False 3 100;0;0 6.185 False ENSG00000130921 ENSG00000130921 HGNC:26784 C12orf66 gene C12orf66 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 83, OMIM:621100 39824192 False 3 100;0;0 6.185 False ENSG00000174206 ENSG00000174206 HGNC:26517 C16orf62 gene C16orf62 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome 3, OMIM:619135 36113987 False 3 100;0;0 6.185 False ENSG00000103544 ENSG00000103544 HGNC:24641 C19orf70 gene C19orf70 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, OMIM:618329 27485409;29618761 False 3 100;0;0 6.185 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1orf127 gene C1orf127 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 14, autosomal, OMIM:621080;heterotaxy, visceral, 14, autosomal, MONDO:0976135 39753129 False 3 100;0;0 6.185 False ENSG00000175262 ENSG00000175262 HGNC:26730 C1QBP gene C1QBP Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy;Cardiomyopathy;Combined oxidative phosphorylation deficiency 33, OMIM:617713;Ologohydramnios;Metabolic acidosis 32304219;33977026;28942965 False 3 50;50;0 6.185 False ENSG00000108561 ENSG00000108561 HGNC:1243 C21orf2 gene C21orf2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Axial Spondylometaphyseal Dysplasia False 3 100;0;0 6.185 False ENSG00000160226 ENSG00000160226 HGNC:1260 C21orf59 gene C21orf59 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, OMIM:615500;Primary ciliary dyskinesia 26, MONDO:0014211 False 3 50;50;0 6.185 False ENSG00000159079 ENSG00000159079 HGNC:1301 C2CD3 gene C2CD3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, OMIM:615948;Orofaciodigital syndrome type 14, MONDO:0014413 False 3 50;50;0 6.185 False ENSG00000168014 ENSG00000168014 HGNC:24564 C2orf69 gene C2orf69 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 33945503;34038740 False 3 100;0;0 6.185 False ENSG00000178074 ENSG00000178074 HGNC:26799 C5orf42 gene C5orf42 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME False 3 100;0;0 6.185 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONE-ROD DYSTROPHY 16 False 3 100;0;0 6.185 False ENSG00000156172 ENSG00000156172 HGNC:27232 CA2 gene CA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 False 3 100;0;0 6.185 False ENSG00000104267 ENSG00000104267 HGNC:1373 CA8 gene CA8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 False 3 100;0;0 6.185 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACHD1 gene CACHD1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities;syndromic complex neurodevelopmental disorder, MONDO:0800439 38158856 False 3 50;50;0 6.185 False ENSG00000158966 ENSG00000158966 HGNC:29314 CACNA1C gene CACNA1C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder False 3 100;0;0 6.185 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1E gene CACNA1E DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias;Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia 30849329 False 3 100;0;0 6.185 False Other - please provide details in the comments ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 False 3 100;0;0 6.185 False ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1S gene CACNA1S Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246 28012042;38111203;33060286 False 3 67;33;0 6.185 False ENSG00000081248 ENSG00000081248 HGNC:1397 CAMSAP1 gene CAMSAP1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 False 3 100;0;0 6.185 False ENSG00000130559 ENSG00000130559 HGNC:19946 CANT1 gene CANT1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epiphyseal dysplasia, multiple, 7, 617719;Desbuquois dysplasia 1, 251450 False 3 100;0;0 6.185 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASK gene CASK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MRX WITH/WITHOUT NYSTAGMUS;MENTAL RETARDATION X-LINKED CASK-RELATED;FG SYNDROME TYPE 4 False 3 100;0;0 6.185 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASP2 gene CASP2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 37880421 False 3 100;0;0 6.185 False ENSG00000106144 ENSG00000106144 HGNC:1503 CASR gene CASR Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant, 601198;Hypocalciuric hypercalcemia, type I, 145980;Hyperparathyroidism, neonatal, 239200;Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 False 3 100;0;0 6.185 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBFB gene CBFB Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysplasia-2, OMIM:620099 False 3 100;0;0 6.185 False ENSG00000067955 ENSG00000067955 HGNC:1539 CBL gene CBL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA False 3 100;0;0 6.185 False ENSG00000110395 ENSG00000110395 HGNC:1541 CBY1 gene CBY1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Joubert syndrome;Cerebellar ataxia;Polydactyly;Molar tooth sign 33131181;25220153;25103236 False 3 100;0;0 6.185 False ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 9;COACH SYNDROME;MECKEL SYNDROME, TYPE 6 False 3 100;0;0 6.185 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 False 3 100;0;0 6.185 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA False 3 100;0;0 6.185 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA False 3 100;0;0 6.185 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, OMIM:616037;Primary ciliary dyskinesia 30, MONDO:0014465 False 3 50;50;0 6.185 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC22 gene CCDC22 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2, OMIM:300963 24916641;21826058;34020006;31971710;33059814 False 3 67;33;0 6.185 False ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC32 gene CCDC32 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiofacioneurodevelopmental syndrome, OMIM:619123 False 3 100;0;0 6.185 False ENSG00000128891 ENSG00000128891 HGNC:28295 CCDC39 gene CCDC39 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 14 False 3 100;0;0 6.185 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 15 False 3 100;0;0 6.185 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC8 gene CCDC8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, OMIM:614205;3M syndrome 3, MONDO:0013627 False 3 50;50;0 6.185 False ENSG00000169515 ENSG00000169515 HGNC:25367 CCDC88A gene CCDC88A Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, OMIM:617507 False 3 100;0;0 6.185 False ENSG00000115355 ENSG00000115355 HGNC:25523 CCDC88C gene CCDC88C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 1, OMIM:236600;Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360 False 3 50;50;0 6.185 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME False 3 100;0;0 6.185 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDAN1 gene CDAN1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 30786798;29668551;29599085 False 3 100;0;0 6.185 False ENSG00000140326 ENSG00000140326 HGNC:1713 CDC42 gene CDC42 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Takenouchi-Kosaki syndrome, OMIM:616737 False 3 100;0;0 6.185 False ENSG00000070831 ENSG00000070831 HGNC:1736 CDC42BPB gene CDC42BPB Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 False 3 100;0;0 6.185 False ENSG00000198752 ENSG00000198752 HGNC:1738 CDC45 gene CDC45 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin Syndrome and Craniosynostosis False 3 100;0;0 6.185 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDC6 gene CDC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5, OMIM:613805 False 3 100;0;0 6.185 False ENSG00000094804 ENSG00000094804 HGNC:1744 CDH1 gene CDH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharocheilodontic syndrome 1, OMIM:119580 False 3 100;0;0 6.185 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDH2 gene CDH2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 31650526;31585109 False 3 100;0;0 6.185 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDH3 gene CDH3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EEM SYNDROME;HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY False 3 100;0;0 6.185 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDK10 gene CDK10 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Al Kaissi syndrome, OMIM:617694 34974531;28886341 False 3 100;0;0 6.185 False ENSG00000185324 ENSG00000185324 HGNC:1770 CDK13 gene CDK13 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease False 3 100;0;0 6.185 False ENSG00000065883 ENSG00000065883 HGNC:1733 CDK5 gene CDK5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342;lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 25560765;40186457 False 3 100;0;0 6.185 False ENSG00000164885 ENSG00000164885 HGNC:1774 CDK5RAP2 gene CDK5RAP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, OMIM:604804;Microcephaly 3, primary, autosomal recessive, MONDO:0011488 False 3 50;50;0 6.185 False ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748 31742715;30905399 False 3 100;0;0 6.185 False ENSG00000132964 ENSG00000132964 HGNC:1779 CDKL5 gene CDKL5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 False 3 100;0;0 6.185 False ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN1C gene CDKN1C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BECKWITH-WIEDEMANN SYNDROME;IMAGe Syndrome False 3 100;0;0 6.185 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDON gene CDON Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 11 False 3 100;0;0 6.185 False ENSG00000064309 ENSG00000064309 HGNC:17104 CDT1 gene CDT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804 False 3 100;0;0 6.185 False ENSG00000167513 ENSG00000167513 HGNC:24576 CDX2 gene CDX2 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple congenital anomalies 29177441;32058622;34671974 False 3 100;0;0 6.185 False ENSG00000165556 ENSG00000165556 HGNC:1806 CELSR1 gene CELSR1 Expert list;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 9, OMIM:619319 38272662;31403174;26855770;31215153 False 3 67;17;17 6.185 False ENSG00000075275 ENSG00000075275 HGNC:1850 CENPF gene CENPF Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605 PMID: 26820108;25564561 False 3 100;0;0 6.185 False ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 6;SECKEL SYNDROME TYPE 4 False 3 100;0;0 6.185 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP104 gene CEP104 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781 False 3 100;0;0 6.185 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 31;Short-rib thoracic dysplasia 13 with or without polydactyly PMID: 2720821;25361962 False 3 100;0;0 6.185 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP135 gene CEP135 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 8, primary, autosomal recessive, OMIM:614673;Microcephaly 8, primary, autosomal recessive, MONDO:0013849 False 3 50;50;0 6.185 False ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 4;SECKEL SYNDROME TYPE 5 False 3 100;0;0 6.185 False ENSG00000103995 ENSG00000103995 HGNC:29298 CEP164 gene CEP164 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 15 614845 False 3 100;0;0 6.185 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME TYPE 5;LEBER CONGENITAL AMAUROSIS TYPE 10;SENIOR-LOKEN SYNDROME TYPE 6;BARDET-BIEDL SYNDROME TYPE 14;MECKEL SYNDROME TYPE 4 False 3 100;0;0 6.185 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP295 gene CEP295 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 11, OMIM:620767 38154379 False 3 100;0;0 6.185 False ENSG00000166004 ENSG00000166004 HGNC:29366 CEP41 gene CEP41 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 15 False 3 100;0;0 6.185 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP55 gene CEP55 Expert Review Green;Other Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500;lethal CEP55-related syndromes 28264986;28295209;30622327 False 3 100;0;0 6.185 False ENSG00000138180 ENSG00000138180 HGNC:1161 CEP57 gene CEP57 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000166037 ENSG00000166037 HGNC:30794 CEP63 gene CEP63 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Seckel syndrome 6, OMIM:614728;Seckel syndrome 6, MONDO:0013871 False 3 50;50;0 6.185 False ENSG00000182923 ENSG00000182923 HGNC:25815 CEP76 gene CEP76 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa;complex neurodevelopmental disorder MONDO:0100038 False 3 100;0;0 6.185 False ENSG00000101624 ENSG00000101624 HGNC:25727 CEP83 gene CEP83 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000173588 ENSG00000173588 HGNC:17966 CEP85L gene CEP85L Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 10, posterior predominant, OMIM:618873 32097630 False 3 100;0;0 6.185 False ENSG00000111860 ENSG00000111860 HGNC:21638 CERS3 gene CERS3 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9, 615023 False 3 100;0;0 6.185 False ENSG00000154227 ENSG00000154227 HGNC:23752 CFAP45 gene CFAP45 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608 33139725 False 3 100;0;0 6.185 False ENSG00000213085 ENSG00000213085 HGNC:17229 CFAP52 gene CFAP52 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607 33139725;25469542 False 3 100;0;0 6.185 False ENSG00000166596 ENSG00000166596 HGNC:16053 CFAP53 gene CFAP53 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive;Dextrocardia;Transposition of the great arteries;gut malrotation;midline liver;inverted spleen PMID: 22577226;PMID: 25504577;PMID: 26531781 False 3 100;0;0 6.185 False ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS;Heterotaxy, visceral, 2, autosomal, 605376 11062482;11799476 False 3 100;0;0 6.185 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFL2 gene CFL2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, OMIM:610687;Nemaline myopathy 7, MONDO:0012538 False 3 50;50;0 6.185 False ENSG00000165410 ENSG00000165410 HGNC:1875 CFTR gene CFTR Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis 219700 False 3 100;0;0 6.185 False ENSG00000001626 ENSG00000001626 HGNC:1884 CHAMP1 gene CHAMP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 False 3 100;0;0 6.185 False ENSG00000198824 ENSG00000198824 HGNC:20311 CHAT gene CHAT Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic 254210 False 3 100;0;0 6.185 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHD4 gene CHD4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome OMIM:617159;Sifrim-Hitz-Weiss syndrome MONDO:0014946 False 3 100;0;0 6.185 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KALLMANN SYNDROME TYPE 5;IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM;CHARGE SYNDROME False 3 100;0;0 6.185 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHKB gene CHKB Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type 602541 False 3 100;0;0 6.185 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP1A gene CHMP1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, OMIM:614961;Pontocerebellar hypoplasia type 8, MONDO:0013990 False 3 50;50;0 6.185 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHRNA1 gene CHRNA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE;Multiple pterygium syndrome, lethal type, 253290 18252226;30177536 False 3 100;0;0 6.185 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNA3 gene CHRNA3 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 False 3 100;0;0 6.185 False ENSG00000080644 ENSG00000080644 HGNC:1957 CHRNB1 gene CHRNB1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 2A, slow-channel, 616313;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 False 3 100;0;0 6.185 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Several associated, probably most relevant is lethal multiple pterygium syndrome 253290 False 3 100;0;0 6.185 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809;Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 False 3 100;0;0 6.185 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT False 3 100;0;0 6.185 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE False 3 100;0;0 6.185 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS False 3 100;0;0 6.185 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME False 3 100;0;0 6.185 False ENSG00000131873 ENSG00000131873 HGNC:17198 CHUK gene CHUK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cocoon syndrome, OMIM:613630;Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339 False 3 100;0;0 6.185 False ENSG00000213341 ENSG00000213341 HGNC:1974 CIT gene CIT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 17, primary, autosomal recessive, OMIM:617090;Microcephaly 17, primary, autosomal recessive, MONDO:0014908 False 3 50;50;0 6.185 False ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN3 gene CLCN3 Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512;Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 False 3 100;0;0 6.185 False ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Raynaud-Claes syndrome, OMIM:300114 False 3 100;0;0 6.185 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN7 gene CLCN7 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal CLCN7-RELATED OSTEOPETROSIS;Osteopetrosis, autosomal recessive 4, OMIM:611490;Osteopetrosis, autosomal dominant 2, OMIM:166600;Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 False 3 100;0;0 6.185 False ENSG00000103249 ENSG00000103249 HGNC:2025 CLCNKA gene CLCNKA Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic, OMIM:613090 False 3 100;0;0 6.185 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bartter disease type 4B, MONDO:0000909;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822 18310267;29254190 False 3 50;50;0 6.185 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLP1 gene CLP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10, OMIM:615803;Pontocerebellar hypoplasia type 10, MONDO:0014349 False 3 67;33;0 6.185 False ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 28687938;34140661 False 3 100;0;0 6.185 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLTC gene CLTC Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 56, OMIM:617854;Fetal akinesia;Fetal growth restriction 33743358;26822784;31776469;34230591;29100083 False 3 67;33;0 6.185 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNOT1 gene CNOT1 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 12, with or without pancreatic agenesis, 618500 31006510;31006513 False 3 100;0;0 6.185 False Other - please provide details in the comments ENSG00000125107 ENSG00000125107 HGNC:7877 CNOT2 gene CNOT2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, OMIM:618608 31512373;31145527;28135719 False 3 100;0;0 6.185 False ENSG00000111596 ENSG00000111596 HGNC:7878 CNOT3 gene CNOT3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CNOT3 syndrome;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 False 3 100;0;0 6.185 False ENSG00000088038 ENSG00000088038 HGNC:7879 CNTNAP1 gene CNTNAP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LETHAL CONGENITAL CONTRACTURE SYNDROME 7 False 3 100;0;0 6.185 False ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME False 3 100;0;0 6.185 False ENSG00000174469 ENSG00000174469 HGNC:13830 COA7 gene COA7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387 27683825;29718187 False 3 100;0;0 6.185 False ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 100;0;0 6.185 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG1 gene COG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COG1-CDG False 3 100;0;0 6.185 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COG4-CDG;Saul-Wilson syndrome, 618150 30290151 False 3 100;0;0 6.185 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type III, OMIM:613612;COG5-CDG, MONDO:0013325 False 3 50;50;0 6.185 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, 614576;Shaheen syndrome, 615328 False 3 100;0;0 6.185 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COG7-CDG False 3 100;0;0 6.185 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COG8-CDG 30690882 False 3 100;0;0 6.185 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL10A1 gene COL10A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA False 3 100;0;0 6.185 False ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal FIBROCHONDROGENESIS;STICKLER SYNDROME, TYPE II False 3 100;0;0 6.185 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal WEISSENBACHER-ZWEYMUELLER SYNDROME;DEAFNESS AUTOSOMAL RECESSIVE TYPE 53;AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA;DEAFNESS AUTOSOMAL DOMINANT TYPE 13;STICKLER SYNDROME TYPE 3 False 3 100;0;0 6.185 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL12A1 gene COL12A1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 2, 616471;?Ullrich congenital muscular dystrophy 2, 616470 False 3 100;0;0 6.185 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL13A1 gene COL13A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720;Congenital myasthenic syndrome 19, MONDO:0014745 False 3 50;50;0 6.185 False ENSG00000197467 ENSG00000197467 HGNC:2190 COL18A1 gene COL18A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 10942434;30007336;19160445;18484314;12415512;19160445;28602933;28950998 False 3 100;0;0 6.185 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA;EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED;OSTEOGENESIS IMPERFECTA TYPE III;EHLERS-DANLOS SYNDROME TYPE VIIA;OSTEOGENESIS IMPERFECTA TYPE IIA;CAFFEY DISEASE;OSTEOGENESIS IMPERFECTA TYPE I False 3 100;0;0 6.185 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome;Osteogenesis imperfecta False 3 100;0;0 6.185 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL25A1 gene COL25A1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168 26437029;40158061;35077597 False 3 60;20;20 6.185 False ENSG00000188517 ENSG00000188517 HGNC:18603 COL2A1 gene COL2A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE;SPONDYLOPERIPHERAL DYSPLASIA;STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR;PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE;ACHONDROGENESIS TYPE 2;RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA;KNIEST DYSPLASIA False 3 100;0;0 6.185 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL3A1 gene COL3A1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, vascular type, OMIM:130050;Polymicrogyria with or without vascular-type EDS, OMIM:618343 PMID: 28258187;28742248;25205403;27168972;24922459 False 3 100;0;0 6.185 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PORENCEPHALY 1 30266093;30712878;32732225 False 3 100;0;0 6.185 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PORENCEPHALY 2 32732225 False 3 100;0;0 6.185 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000113163 ENSG00000113163 HGNC:2205 COL6A1 gene COL6A1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 False 3 100;0;0 6.185 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 1 254090;Bethlem myopathy 1 158810 False 3 100;0;0 6.185 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 False 3 100;0;0 6.185 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL9A1 gene COL9A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal STICKLER SYNDROME TYPE 4;MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 False 3 100;0;0 6.185 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2;STICKLER SYNDROME, TYPE V False 3 100;0;0 6.185 False ENSG00000049089 ENSG00000049089 HGNC:2218 COLEC10 gene COLEC10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3, OMIM:248340;3MC syndrome 3, MONDO:0009554 False 3 50;50;0 6.185 False ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000118004 ENSG00000118004 HGNC:17213 COLQ gene COLQ Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, 603034 9689136;11865139 False 3 100;0;0 6.185 False ENSG00000206561 ENSG00000206561 HGNC:2226 COMP gene COMP Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 1, OMIM:132400;Pseudoachondroplasia, OMIM:177170 39521787;40188065 False 3 75;0;25 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105664 ENSG00000105664 HGNC:2227 COQ2 gene COQ2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 39763161 False 3 75;0;25 6.185 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 7 False 3 50;50;0 6.185 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ7 gene COQ7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733 26084283;31240163 False 3 100;0;0 6.185 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY 30712880 False 3 100;0;0 6.185 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX7B gene COX7B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA WITH LINEAR SKIN LESIONS False 3 100;0;0 6.185 False ENSG00000131174 ENSG00000131174 HGNC:2291 CPT2 gene CPT2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 False 3 100;0;0 6.185 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRADD gene CRADD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 29947050;27773430 False 3 50;50;0 6.185 False ENSG00000169372 ENSG00000169372 HGNC:2340 CRB2 gene CRB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE False 3 100;0;0 6.185 False ENSG00000148204 ENSG00000148204 HGNC:18688 CREB3L1 gene CREB3L1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI, 616229 False 3 100;0;0 6.185 False ENSG00000157613 ENSG00000157613 HGNC:18856 CREBBP gene CREBBP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CREBBP intellectual disability without typical RTS features;RUBINSTEIN-TAYBI SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies, 615789 False 3 100;0;0 6.185 False ENSG00000119878 ENSG00000119878 HGNC:14312 CRLF1 gene CRLF1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1 272430 False 3 100;0;0 6.185 False ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII 610682 False 3 100;0;0 6.185 False ENSG00000170275 ENSG00000170275 HGNC:2379 CRYAA gene CRYAA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1;CATARACT, NUCLEAR False 3 100;0;0 6.185 False ENSG00000160202 ENSG00000160202 HGNC:2388 CRYBA1 gene CRYBA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES False 3 100;0;0 6.185 False ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT ZONULAR TYPE 2 False 3 100;0;0 6.185 False ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATARACT 17, MULTIPLE TYPES;CATARACT 17, MULTIPLE TYPES, MONOALLELIC;CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 False 3 100;0;0 6.185 False ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT, COPPOCK-LIKE;CATARACT, CONGENITAL, CERULEAN TYPE, 2 False 3 100;0;0 6.185 False ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, OMIM:609741 False 3 100;0;0 6.185 False ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT False 3 100;0;0 6.185 False ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT;CATARACT CONGENITAL CERULEAN TYPE 3 False 3 100;0;0 6.185 False ENSG00000118231 ENSG00000118231 HGNC:2411 CSDE1 gene CSDE1 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 3 100;0;0 6.185 False ENSG00000009307 ENSG00000009307 HGNC:29905 CSF1R gene CSF1R Expert Review;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476;BANDDOS 30982608 False 3 100;0;0 6.185 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSGALNACT1 gene CSGALNACT1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870 31705726;31325655 False 3 100;0;0 6.185 False ENSG00000147408 ENSG00000147408 HGNC:24290 CSNK2A1 gene CSNK2A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSNK2A1 syndrome;Okur-Chung neurodevelopmental syndrome, 617062 False 3 100;0;0 6.185 False ENSG00000101266 ENSG00000101266 HGNC:2457 CSPP1 gene CSPP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY False 3 100;0;0 6.185 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS False 3 100;0;0 6.185 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTCF gene CTCF Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000102974 ENSG00000102974 HGNC:13723 CTGF gene CTGF Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Kyphomelic dysplasia, OMIM:211350;kyphomelic dysplasia, MONDO:0008881;spondyloepimetaphyseal dysplasia, MONDO:0100510 39506047;12736220;39414788 False 3 100;0;0 6.185 False ENSG00000118523 ENSG00000118523 HGNC:2500 CTNNA2 gene CTNNA2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 30013181 False 3 100;0;0 6.185 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 27915094 False 3 100;0;0 6.185 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTNND1 gene CTNND1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharo-cheiro-dontic syndrome False 3 50;50;0 6.185 False ENSG00000198561 ENSG00000198561 HGNC:2515 CTSA gene CTSA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GALACTOSIALIDOSIS 7759227 False 3 100;0;0 6.185 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 False 3 100;0;0 6.185 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PYCNODYSOSTOSIS False 3 100;0;0 6.185 False ENSG00000143387 ENSG00000143387 HGNC:2536 CTU2 gene CTU2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 False 3 100;0;0 6.185 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUL4B gene CUL4B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE False 3 100;0;0 6.185 False ENSG00000158290 ENSG00000158290 HGNC:2555 CUL7 gene CUL7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-M SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000044090 ENSG00000044090 HGNC:21024 CWC27 gene CWC27 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, skeletal anomalies and intellectual disability 28285769 False 3 100;0;0 6.185 False ENSG00000153015 ENSG00000153015 HGNC:10664 CYBB gene CYBB Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chronic granulomatous disease, X-linked, OMIM:306400 16795136;33082562 False 3 100;0;0 6.185 False ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 11502818;29995203;31671693;12161514;15507506;16705068;18182448;19116240;28425981 False 3 100;0;0 6.185 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010 False 3 100;0;0 6.185 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP17A1 gene CYP17A1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency;17,20-lyase deficiency, isolated False 3 100;0;0 6.185 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP1B1 gene CYP1B1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CONGENITAL GLAUCOMA TYPE 3A False 3 100;0;0 6.185 False ENSG00000138061 ENSG00000138061 HGNC:2597 CYP21A2 gene CYP21A2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency;Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency False 3 100;0;0 6.185 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP26B1 gene CYP26B1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416" False 3 100;0;0 6.185 False ENSG00000003137 ENSG00000003137 HGNC:20581 CYP2U1 gene CYP2U1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA False 3 100;0;0 6.185 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP4F22 gene CYP4F22 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, 604777 False 3 100;0;0 6.185 False ENSG00000171954 ENSG00000171954 HGNC:26820 DAG1 gene DAG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 False 3 100;0;0 6.185 False ENSG00000173402 ENSG00000173402 HGNC:2666 DARS gene DARS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. False 3 100;0;0 6.185 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 33977142 False 3 67;0;33 6.185 False ENSG00000117593 ENSG00000117593 HGNC:25538 DAW1 gene DAW1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 52, OMIM:620570 36074124;28991257 False 3 100;0;0 6.185 False ENSG00000123977 ENSG00000123977 HGNC:26383 DCC gene DCC Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 19127048;19720981;20431009;21242494;28250454;31697046;28250456;33141514 False 3 67;33;0 6.185 False ENSG00000187323 ENSG00000187323 HGNC:2701 DCHS1 gene DCHS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PERIVENTRICULAR NEURONAL HETEROTOPIA False 3 100;0;0 6.185 False ENSG00000166341 ENSG00000166341 HGNC:13681 DCX gene DCX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 3 100;0;0 6.185 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDR2 gene DDR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE False 3 100;0;0 6.185 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDRGK1 gene DDRGK1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 35670300;35377455;28263186;36243336 False 3 100;0;0 6.185 False ENSG00000198171 ENSG00000198171 HGNC:16110 DDX11 gene DDX11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WARSAW BREAKAGE SYNDROME False 3 100;0;0 6.185 False ENSG00000013573 ENSG00000013573 HGNC:2736 DDX3X gene DDX3X Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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, Snijders Blok type, OMIM:300958 30266093;26235985;25533962 False 3 100;0;0 6.185 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, OMIM:174300;Orofaciodigital syndrome V, MONDO:0008267 False 3 50;50;0 6.185 False ENSG00000118197 ENSG00000118197 HGNC:25360 DENND5A gene DENND5A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 49, OMIM:617281;Developmental and epileptic encephalopathy, 49, MONDO:0015002 False 3 50;50;0 6.185 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 111, OMIM:620504 32848577;36067010 False 3 50;25;25 6.185 False ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DESMOSTEROLOSIS False 3 100;0;0 6.185 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SMITH-LEMLI-OPITZ SYNDROME 31840946 False 3 100;0;0 6.185 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR gene DHFR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal POSTAXIAL ACROFACIAL DYSOSTOSIS False 3 100;0;0 6.185 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHRSX gene DHRSX Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 3 100;0;0 6.185 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHX30 gene DHX30 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 34020708;38366977;34145223;34180050;37094863;36643085 False 3 67;33;0 6.185 False ENSG00000132153 ENSG00000132153 HGNC:16716 DHX37 gene DHX37 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731 False 3 100;0;0 6.185 False ENSG00000150990 ENSG00000150990 HGNC:17210 DHX9 gene DHX9 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 75, OMIM:620988 37369308;37467750 False 3 100;0;0 6.185 False ENSG00000135829 ENSG00000135829 HGNC:2750 DIAPH1 gene DIAPH1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, 616632 False 3 100;0;0 6.185 False ENSG00000131504 ENSG00000131504 HGNC:2876 DIS3L2 gene DIS3L2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PERLMAN SYNDROME False 3 100;0;0 6.185 False ENSG00000144535 ENSG00000144535 HGNC:28648 DISP1 gene DISP1 Expert list;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Holoprosencephaly 10, OMIM:621143 27363716 False 3 100;0;0 6.185 False ENSG00000154309 ENSG00000154309 HGNC:19711 DKC1 gene DKC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females DYSKERATOSIS CONGENITA, X-LINKED;DKC1-RELATED DYSKERATOSIS CONGENITA False 3 100;0;0 6.185 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG5 gene DLG5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauser syndrome, OMIM:620703 32631816;30791088 False 3 100;0;0 6.185 False ENSG00000151208 ENSG00000151208 HGNC:2904 DLL1 gene DLL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 31353024 False 3 100;0;0 6.185 False ENSG00000198719 ENSG00000198719 HGNC:2908 DLL3 gene DLL3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 False 3 100;0;0 6.185 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 6 False 3 100;0;0 6.185 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLX5 gene DLX5 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600;Split-hand/foot malformation 1, 183600 False 3 100;0;0 6.185 False ENSG00000105880 ENSG00000105880 HGNC:2918 DNA2 gene DNA2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, OMIM:615807 31045292;24389050 False 3 100;0;0 6.185 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAAF1 gene DNAAF1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 613193 False 3 100;0;0 6.185 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, 612518 False 3 100;0;0 6.185 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINEASIA;Ciliary dyskinesia, primary, 2, MIM:606763 False 3 100;0;0 6.185 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSPLASIA False 3 100;0;0 6.185 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, OMIM:614874;Primary ciliary dyskinesia 18, MONDO:0013940 False 3 50;50;0 6.185 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 611884 False 3 100;0;0 6.185 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 3;Primary ciliary dyskinesia 608644;heterotaxy False 3 100;0;0 6.185 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Motile Cilia Defects and Situs Inversus 30471717;30471718 False 3 100;0;0 6.185 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 244400 False 3 100;0;0 6.185 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 False 3 100;0;0 6.185 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB11 gene DNAJB11 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 6 with or without polycystic liver disease, 618061 False 3 100;0;0 6.185 False ENSG00000090520 ENSG00000090520 HGNC:14889 DNAL1 gene DNAL1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017 False 3 100;0;0 6.185 False ENSG00000119661 ENSG00000119661 HGNC:23247 DNM1L gene DNM1L Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 False 3 100;0;0 6.185 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lethal congenital contracture syndrome 5, 615368 PMID: 30208955 False 3 100;0;0 6.185 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT3A gene DNMT3A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000119772 ENSG00000119772 HGNC:2978 DNMT3B gene DNMT3B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK6 gene DOCK6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000130158 ENSG00000130158 HGNC:19189 DOK7 gene DOK7 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Fetal akinesia deformation sequence 3, 618389;Myasthenic syndrome, congenital, 10, 254300 30266093 False 3 100;0;0 6.185 False ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 28816422 False 3 100;0;0 6.185 False Other ENSG00000175283 ENSG00000175283 HGNC:23406 DONSON gene DONSON Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly-micromelia syndrome, 251230;Microcephaly, short stature, and limb abnormalities, 617604 False 3 100;0;0 6.185 False ENSG00000159147 ENSG00000159147 HGNC:2993 DOT1L gene DOT1L Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 False 3 100;0;0 6.185 False ENSG00000104885 ENSG00000104885 HGNC:24948 DPAGT1 gene DPAGT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2;DPAGT1-CDG False 3 100;0;0 6.185 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPF2 gene DPF2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 7, OMIM:618027 29429572;31706665 False 3 67;33;0 6.185 False ENSG00000133884 ENSG00000133884 HGNC:9964 DPH1 gene DPH1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 25558065;29362492;30877278;32732226 False 3 100;0;0 6.185 False ENSG00000108963 ENSG00000108963 HGNC:3003 DPH5 gene DPH5 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 False 3 100;0;0 6.185 False ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION False 3 100;0;0 6.185 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, 615042 False 3 100;0;0 6.185 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 False 3 50;50;0 6.185 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYSL5 gene DPYSL5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ritscher-Schinzel syndrome 4, OMIM:619435 33894126 False 3 100;0;0 6.185 False ENSG00000157851 ENSG00000157851 HGNC:20637 DRG1 gene DRG1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Tan-Almurshedi syndrome, OMIM:620641 37179472 False 3 100;0;0 6.185 False ENSG00000185721 ENSG00000185721 HGNC:3029 DSE gene DSE Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539 31655143;25703627;23704329;32130795 False 3 100;0;0 6.185 False ENSG00000111817 ENSG00000111817 HGNC:21144 DSP gene DSP Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR);Skin fragility-woolly hair syndrome, OMIM:607655 (AR);Keratosis palmoplantaris striata II, OMIM:612908 (AD);Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD);Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) 30993396 False 3 100;0;0 6.185 False ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168;arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 37431644;40497796;35942699;22522446;35276021 False 3 100;0;0 6.185 False ENSG00000151914 ENSG00000151914 HGNC:1090 DSTYK gene DSTYK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 False 3 100;0;0 6.185 False ENSG00000133059 ENSG00000133059 HGNC:29043 DVL1 gene DVL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT ROBINOW SYNDROME False 3 100;0;0 6.185 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT ROBINOW SYNDROME False 3 100;0;0 6.185 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SMITH-MCCORT DYSPLASIA;DYGGVE-MELCHIOR-CLAUSEN SYNDROME False 3 100;0;0 6.185 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SEVERE ID WITH NEURONAL MIGRATION DISORDER;SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD False 3 100;0;0 6.185 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC1I1 gene DYNC1I1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/split-foot malformation (SHFM) 32219838;25231166;22914741 False 3 100;0;0 6.185 False ENSG00000158560 ENSG00000158560 HGNC:2963 DYNC1I2 gene DYNC1I2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 31079899 False 3 100;0;0 6.185 False ENSG00000077380 ENSG00000077380 HGNC:2964 DYNC2H1 gene DYNC2H1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHORT RIB-POLYDACTYLY SYNDROME TYPE 3;ASPHYXIATING THORACIC DYSTROPHY TYPE 3 False 3 100;0;0 6.185 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly, 617088 False 3 100;0;0 6.185 False ENSG00000138036 ENSG00000138036 HGNC:24595 DYRK1A gene DYRK1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 False 3 100;0;0 6.185 False ENSG00000157540 ENSG00000157540 HGNC:3091 DZIP1L gene DZIP1L Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, 617610 False 3 100;0;0 6.185 False ENSG00000158163 ENSG00000158163 HGNC:26551 EARS2 gene EARS2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, OMIM:614924 27571996;31680123 False 3 100;0;0 6.185 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBF3 gene EBF3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 False 3 100;0;0 6.185 False ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CHONDRODYSPLASIA PUNCTATA 2, X-LINKED False 3 100;0;0 6.185 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DISTAL ARTHROGRYPOSIS TYPE 5D False 3 100;0;0 6.185 False ENSG00000171551 ENSG00000171551 HGNC:3147 ECHS1 gene ECHS1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 30918357;26920905;26000322 False 3 100;0;0 6.185 False ENSG00000127884 ENSG00000127884 HGNC:3151 EDNRA gene EDNRA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA False 3 100;0;0 6.185 False ENSG00000151617 ENSG00000151617 HGNC:3179 EDNRB gene EDNRB Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ABCD SYNDROME 7778600;11891690 False 3 100;0;0 6.185 False ENSG00000136160 ENSG00000136160 HGNC:3180 EED gene EED Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cohen-Gibson syndrome, OMIM:617561;Cohen-Gibson syndrome, MONDO:0060510 False 3 50;50;0 6.185 False ENSG00000074266 ENSG00000074266 HGNC:3188 EEF2 gene EEF2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hydrocephalus;Neurodevelopmental disorder;macrocephaly 33355653 False 3 100;0;0 6.185 False ENSG00000167658 ENSG00000167658 HGNC:3214 EEFSEC gene EEFSEC Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102 39753114 False 3 100;0;0 6.185 False ENSG00000132394 ENSG00000132394 HGNC:24614 EFCAB1 gene EFCAB1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 53, OMIM:620642 36727596 False 3 100;0;0 6.185 False ENSG00000034239 ENSG00000034239 HGNC:25678 EFEMP2 gene EFEMP2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB, OMIM:614437 19664000;23532871;31548410;30140196 False 3 100;0;0 6.185 False ENSG00000172638 ENSG00000172638 HGNC:3219 EFL1 gene EFL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, OMIM:617941 28331068;31151987;34115847;29970384 False 3 100;0;0 6.185 False ENSG00000140598 ENSG00000140598 HGNC:25789 EFNB1 gene EFNB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia, OMIM:304110 False 3 100;0;0 6.185 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY False 3 100;0;0 6.185 False ENSG00000108883 ENSG00000108883 HGNC:30858 EHBP1L1 gene EHBP1L1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369 34645488;26833786;https://dmdd.org.uk/mutants/Ehbp1l1 False 3 100;0;0 6.185 False ENSG00000173442 ENSG00000173442 HGNC:30682 EHMT1 gene EHMT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 9Q SUBTELOMERIC DELETION SYNDROME False 3 100;0;0 6.185 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK3 gene EIF2AK3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WOLCOTT-RALLISON SYNDROME False 3 100;0;0 6.185 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B2 gene EIF2B2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 30266093;28597716 False 3 100;0;0 6.185 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal vanishing white matter disease 603896 28597716 False 3 100;0;0 6.185 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2S3 gene EIF2S3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, OMIM:300148;MEHMO syndrome, MONDO:0010258 False 3 50;50;0 6.185 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF4A2 gene EIF4A2 Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 False 3 100;0;0 6.185 False ENSG00000156976 ENSG00000156976 HGNC:3284 EIF4A3 gene EIF4A3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RICHIERI-COSTA-PEREIRA SYNDROME False 3 100;0;0 6.185 False ENSG00000141543 ENSG00000141543 HGNC:18683 EIF5A gene EIF5A Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Faundes-Banka syndrome, OMIM:619376 33547280 False 3 100;0;0 6.185 False ENSG00000132507 ENSG00000132507 HGNC:3300 ELAC2 gene ELAC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY False 3 100;0;0 6.185 False ENSG00000006744 ENSG00000006744 HGNC:14198 ELN gene ELN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ELN-RELATED CUTIS LAXA;SUPRAVALVAR AORTIC STENOSIS False 3 100;0;0 6.185 False ENSG00000049540 ENSG00000049540 HGNC:3327 ELOVL4 gene ELOVL4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000118402 ENSG00000118402 HGNC:14415 EMC10 gene EMC10 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 False 3 100;0;0 6.185 False ENSG00000161671 ENSG00000161671 HGNC:27609 EMD gene EMD Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked 310300 26247046 False 3 100;0;0 6.185 False ENSG00000102119 ENSG00000102119 HGNC:3331 EMG1 gene EMG1 Expert Review Green;NHS GMS;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, OMIM:211180 19463982 False 3 67;33;0 6.185 False Other ENSG00000126749 ENSG00000126749 HGNC:16912 EML1 gene EML1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 False 3 100;0;0 6.185 False ENSG00000066629 ENSG00000066629 HGNC:3330 EN1 gene EN1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-brain type, OMIM:619218 33568816 False 3 100;0;0 6.185 False ENSG00000163064 ENSG00000163064 HGNC:3342 ENG gene ENG Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 36588762;32954511;15520401 False 3 67;33;0 6.185 False ENSG00000106991 ENSG00000106991 HGNC:3349 ENPP1 gene ENPP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, OMIM:208000 31742715;19521093;19813208 False 3 50;0;50 6.185 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADAMS OLIVER SYNDROME False 3 100;0;0 6.185 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RUBINSTEIN-TAYBI SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPG5 gene EPG5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM False 3 100;0;0 6.185 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPHB4 gene EPHB4 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 7, OMIM:617300;hydrops fetalis 27400125 False 3 100;0;0 6.185 False ENSG00000196411 ENSG00000196411 HGNC:3395 ERBB3 gene ERBB3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, OMIM:607598 17701904;31752936;33720042 False 3 100;0;0 6.185 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 False 3 100;0;0 6.185 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2;TRICHOTHIODYSTROPHY PHOTOSENSITIVE False 3 100;0;0 6.185 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B;TRICHOTHIODYSTROPHY PHOTOSENSITIVE False 3 100;0;0 6.185 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XFE PROGEROID SYNDROME;FANCONI ANEMIA, COMPLEMENTATION GROUP Q;PRIMORDIAL DWARFISM;XERODERMA PIGMENTOSUM, GROUP F;Xeroderma pigmentosum, group F, 278760 False 3 100;0;0 6.185 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, OMIM:616570;Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 24700531;32052936;32557569 False 3 100;0;0 6.185 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal UV-SENSITIVE SYNDROME;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1;COCKAYNE SYNDROME TYPE B;DE SANCTIS-CACCHIONE SYNDROME False 3 100;0;0 6.185 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COCKAYNE SYNDROME TYPE A False 3 100;0;0 6.185 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERF gene ERF Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COMPLEX CRANIOSYNOSTOSIS;Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia False 3 100;0;0 6.185 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERGIC1 gene ERGIC1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100 31230720;28317099;34037256 False 3 100;0;0 6.185 False ENSG00000113719 ENSG00000113719 HGNC:29205 ERI1 gene ERI1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663;Hoxha-Aliu syndrome, OMIM:620662 36208065;37352860;28488351;33942433 False 3 100;0;0 6.185 False ENSG00000104626 ENSG00000104626 HGNC:23994 ESAM gene ESAM Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 39414991;36996813 False 3 100;0;0 6.185 False ENSG00000149564 ENSG00000149564 HGNC:17474 ESCO2 gene ESCO2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SC PHOCOMELIA SYNDROME;ROBERTS SYNDROME False 3 100;0;0 6.185 False ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 False 3 100;0;0 6.185 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677 False 3 100;0;0 6.185 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLUTARIC ACIDURIA TYPE 2C False 3 100;0;0 6.185 False ENSG00000171503 ENSG00000171503 HGNC:3483 EVC gene EVC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ELLIS-VAN CREVELD SYNDROME;ACROFACIAL DYSOSTOSIS WEYERS TYPE False 3 100;0;0 6.185 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530 30712880;38531627;23220543;19810119;16404586 False 3 100;0;0 6.185 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943;Dandy-Walker malformation;Meckel-Gruber-like syndrome 30327448;28749478;27894351 False 3 100;0;0 6.185 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC6B gene EXOC6B Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395 30284759;36150098;26669664 False 3 100;0;0 6.185 False ENSG00000144036 ENSG00000144036 HGNC:17085 EXOC7 gene EXOC7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072 32103185 False 3 100;0;0 6.185 False ENSG00000182473 ENSG00000182473 HGNC:23214 EXOSC3 gene EXOSC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 3 100;0;0 6.185 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081 38017281;34210538;24989451 False 3 75;25;0 6.185 False ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1D, OMIM:618065 30690203;33040083;29727687 False 3 50;50;0 6.185 False ENSG00000123737 ENSG00000123737 HGNC:9137 EXT1 gene EXT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HEREDITARY MULTIPLE EXOSTOSES TYPE 1;TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EXOSTOSES, MULTIPLE, TYPE 2 False 3 100;0;0 6.185 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 28148688;28132690 False 3 100;0;0 6.185 False ENSG00000012232 ENSG00000012232 HGNC:3518 EYA1 gene EYA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTORENAL SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000104313 ENSG00000104313 HGNC:3519 EZH2 gene EZH2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WEAVER SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000106462 ENSG00000106462 HGNC:3527 FAAP100 gene FAAP100 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group X, OMIM:621258 40244696;40232843 False 3 100;0;0 6.185 False ENSG00000185504 ENSG00000185504 HGNC:26171 FAH gene FAH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TYROSINEMIA TYPE 1 False 3 100;0;0 6.185 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KENNY-CAFFEY SYNDROME 23684011;23996431;25529582;37023242;34382758 False 3 100;0;0 6.185 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM126A gene FAM126A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY HYPOMYELINATING TYPE 5 False 3 100;0;0 6.185 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM149B1 gene FAM149B1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400 False 3 100;0;0 6.185 False ENSG00000138286 ENSG00000138286 HGNC:29162 FAM20A gene FAM20A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME False 3 100;0;0 6.185 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RAINE SYNDROME False 3 100;0;0 6.185 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM46A gene FAM46A Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVIII, OMIM:617952;Osteogenesis imperfecta, type 18, MONDO:0044329 False 3 100;0;0 6.185 False ENSG00000112773 ENSG00000112773 HGNC:18345 FAM58A gene FAM58A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR SYNDROME False 3 100;0;0 6.185 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCA gene FANCA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP A False 3 100;0;0 6.185 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females FANCB-RELATED FANCONI ANEMIA 28425981 False 3 100;0;0 6.185 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP C False 3 100;0;0 6.185 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP D2 False 3 100;0;0 6.185 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP E False 3 100;0;0 6.185 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP F False 3 100;0;0 6.185 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP G False 3 100;0;0 6.185 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCI-RELATED FANCONI ANEMIA;FANCONI ANEMIA False 3 100;0;0 6.185 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, OMIM:614083;Fanconi anemia complementation group L, MONDO:0013566 False 3 50;50;0 6.185 False ENSG00000115392 ENSG00000115392 HGNC:20748 FAR1 gene FAR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 False 3 100;0;0 6.185 False ENSG00000197601 ENSG00000197601 HGNC:26222 FAS gene FAS Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859 39384643 False 3 100;0;0 6.185 False ENSG00000026103 ENSG00000026103 HGNC:11920 FAT1 gene FAT1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal hand and foot anomalies;nephropathy;ocular anomalies;multiple congenital anomalies 34013115;33418956;34202629;26905694;32902815;30862798 False 3 100;0;0 6.185 False ENSG00000083857 ENSG00000083857 HGNC:3595 FAT4 gene FAT4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PERIVENTRICULAR NEURONAL HETEROTOPIA False 3 100;0;0 6.185 False ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Cutis laxa, autosomal dominant 2, OMIM:614434;Cutis laxa, autosomal recessive, type IA, OMIM:219100 False 3 100;0;0 6.185 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;MARFAN SYNDROME;MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 30266093 False 3 100;0;0 6.185 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital OMIM:121050;congenital contractural arachnodactyly MONDO:0007363 7493032;33571691;25558065;28383543 False 3 100;0;0 6.185 False ENSG00000138829 ENSG00000138829 HGNC:3604 FBRSL1 gene FBRSL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defect;Congenital malformations 32424618;34805182 False 3 100;0;0 6.185 False ENSG00000112787 ENSG00000112787 HGNC:29308 FBXL4 gene FBXL4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE False 3 100;0;0 6.185 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO28 gene FBXO28 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 100, OMIM:619777 False 3 100;0;0 6.185 False ENSG00000143756 ENSG00000143756 HGNC:29046 FBXW7 gene FBXW7 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, hypotonia, and impaired language, OMIM:620012 False 3 100;0;0 6.185 False ENSG00000109670 ENSG00000109670 HGNC:16712 FEM1B gene FEM1B Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 False 3 100;0;0 6.185 False ENSG00000169018 ENSG00000169018 HGNC:3649 FGD1 gene FGD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females AARSKOG-SCOTT SYNDROME False 3 100;0;0 6.185 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGF10 gene FGF10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD SYNDROME False 3 100;0;0 6.185 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF3 gene FGF3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA False 3 100;0;0 6.185 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGF4 gene FGF4 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 False 3 100;0;0 6.185 False ENSG00000075388 ENSG00000075388 HGNC:3682 FGF8 gene FGF8 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 6 with or without anosmia 612702 18596921;20463092;24280688 False 3 50;50;0 6.185 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Hartsfield syndrome, OMIM:615465 False 3 100;0;0 6.185 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BEARE-STEVENSON CUTIS GYRATA SYNDROME;LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME;JACKSON-WEISS SYNDROME;ACROCEPHALOSYNDACTYLY TYPE V;FAMILIAL SCAPHOCEPHALY SYNDROME;ANTLEY-BIXLER SYNDROME;CROUZON SYNDROME;APERT SYNDROME 28425981 False 3 100;0;0 6.185 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME;MUENKE SYNDROME;ACHONDROPLASIA;CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS;CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME;HYPOCHONDROPLASIA;THANATOPHORIC DYSPLASIA TYPE 2;THANATOPHORIC DYSPLASIA TYPE 1 False 3 100;0;0 6.185 False ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 False 3 100;0;0 6.185 False ENSG00000091483 ENSG00000091483 HGNC:3700 FIG4 gene FIG4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome, OMIM:216340;Yunis-Varon syndrome, MONDO:0008995;Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J, MONDO:0012640;?Polymicrogyria, bilateral temporooccipital, OMIM:612691;Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 False 3 50;50;0 6.185 False ENSG00000112367 ENSG00000112367 HGNC:16873 FILIP1 gene FILIP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775 36943452;37163662 False 3 100;0;0 6.185 False ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP10 gene FKBP10 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 1, OMIM:259450;Bruck syndrome 1, MONDO:0009806;Osteogenesis imperfecta, type XI, OMIM:610968;Osteogenesis imperfecta type 11, MONDO:0012592 False 3 100;0;0 6.185 False ENSG00000141756 ENSG00000141756 HGNC:18169 FKBP14 gene FKBP14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS False 3 100;0;0 6.185 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 False 3 100;0;0 6.185 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4;CARDIOMYOPATHY DILATED TYPE 1X;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 False 3 100;0;0 6.185 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) TERMINAL OSSEOUS DYSPLASIA;OTOPALATODIGITAL SYNDROME TYPE 1;EPILEPTIC ENCEPHALOPATHY;MELNICK-NEEDLES SYNDROME;PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1;FG SYNDROME TYPE 2;X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION;OTOPALATODIGITAL SYNDROME TYPE 2;FRONTOMETAPHYSEAL DYSPLASIA 30712878;28425981 False 3 0;100;0 6.185 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATELOSTEOGENESIS TYPE 1;BOOMERANG DYSPLASIA;SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME;AUTOSOMAL DOMINANT LARSEN SYNDROME;ATELOSTEOGENESIS TYPE 3 False 3 100;0;0 6.185 False ENSG00000136068 ENSG00000136068 HGNC:3755 FLNC gene FLNC Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, MONDO:0008779 29858533;33060286 False 3 100;0;0 6.185 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLT4 gene FLT4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MILROY DISEASE False 3 100;0;0 6.185 False ENSG00000037280 ENSG00000037280 HGNC:3767 FLVCR1 gene FLVCR1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 39306721 False 3 80;0;20 6.185 False ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME False 3 100;0;0 6.185 False ENSG00000119686 ENSG00000119686 HGNC:20105 FN1 gene FN1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255 32200603 False 3 67;33;0 6.185 False ENSG00000115414 ENSG00000115414 HGNC:3778 FOLR1 gene FOLR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY False 3 100;0;0 6.185 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOSL2 gene FOSL2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 36197437 False 3 100;0;0 6.185 False ENSG00000075426 ENSG00000075426 HGNC:3798 FOXC1 gene FOXC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IRIDOGONIODYSGENESIS ANOMALY;AXENFELD-RIEGER SYNDROME TYPE 3;PETERS ANOMALY 32720677 False 3 100;0;0 6.185 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LYMPHEDEMA-DISTICHIASIS SYNDROME;HEREDITARY LYMPHEDEMA II False 3 100;0;0 6.185 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BAMFORTH-LAZARUS SYNDROME False 3 100;0;0 6.185 False ENSG00000178919 ENSG00000178919 HGNC:3806 FOXE3 gene FOXE3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256;Cataract 34, multiple types, OMIM:612968;{Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS False 3 100;0;0 6.185 False ENSG00000186790 ENSG00000186790 HGNC:3808 FOXF1 gene FOXF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS False 3 100;0;0 6.185 False ENSG00000103241 ENSG00000103241 HGNC:3809 FOXG1 gene FOXG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270 21441262;19564653;19578037;27029630 False 3 100;0;0 6.185 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXI3 gene FOXI3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia 2, OMIM:620444 25655429;36260083;37041148 False 3 67;33;0 6.185 False ENSG00000214336 ENSG00000214336 HGNC:35123 FOXJ1 gene FOXJ1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ciliary dyskinesia, primary, 43, OMIM:618699 31630787 False 3 100;0;0 6.185 False ENSG00000129654 ENSG00000129654 HGNC:3816 FOXP3 gene FOXP3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females IPEX SYNDROME 28425981 False 3 100;0;0 6.185 False ENSG00000049768 ENSG00000049768 HGNC:6106 FOXP4 gene FOXP4 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital diaphragmatic hernia;Neurodevelopmental disorder;multiple congenital abnormalities 33110267;36301021 False 3 50;50;0 6.185 False ENSG00000137166 ENSG00000137166 HGNC:20842 FOXRED1 gene FOXRED1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 6.185 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRA10AC1 gene FRA10AC1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 34694367 False 3 100;0;0 6.185 False ENSG00000148690 ENSG00000148690 HGNC:1162 FRAS1 gene FRAS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME False 3 100;0;0 6.185 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MANITOBA OCULOTRICHOANAL SYNDROME False 3 100;0;0 6.185 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME False 3 100;0;0 6.185 False ENSG00000150893 ENSG00000150893 HGNC:25396 FRMD4A gene FRMD4A Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 30266093;25388005;30214071 False 3 100;0;0 6.185 False ENSG00000151474 ENSG00000151474 HGNC:25491 FTL gene FTL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME False 3 100;0;0 6.185 False ENSG00000087086 ENSG00000087086 HGNC:3999 FTO gene FTO Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 19234441;26697951;26378117;19559399;26740239;31130284 False 3 67;33;0 6.185 False ENSG00000140718 ENSG00000140718 HGNC:24678 FUT8 gene FUT8 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005;Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 False 3 100;0;0 6.185 False ENSG00000033170 ENSG00000033170 HGNC:4019 FUZ gene FUZ Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Skeletal ciliopathy, MONDO:0005308 29068549;34719684;38702430 False 3 67;33;0 6.185 False ENSG00000010361 ENSG00000010361 HGNC:26219 FYCO1 gene FYCO1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 False 3 100;0;0 6.185 False ENSG00000163820 ENSG00000163820 HGNC:14673 FZD2 gene FZD2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Omodysplasia 2, OMIM:164745;Autosomal dominant omodysplasia, MONDO:0008123 False 3 100;0;0 6.185 False ENSG00000180340 ENSG00000180340 HGNC:4040 G6PC3 gene G6PC3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dursun syndrome;Neutropenia, severe congenital 4, autosomal recessive False 3 100;0;0 6.185 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE TYPE II False 3 100;0;0 6.185 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 False 3 100;0;0 6.185 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EPIMERASE-DEFICIENCY GALACTOSEMIA False 3 100;0;0 6.185 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GALACTOSEMIA II False 3 100;0;0 6.185 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A False 3 100;0;0 6.185 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT2 gene GALNT2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt OMIM:618885 27508872;32293671 False 3 100;0;0 6.185 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALT gene GALT Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galactosemia, OMIM:230400 False 3 75;0;25 6.185 False ENSG00000213930 ENSG00000213930 HGNC:4135 GANAB gene GANAB Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 3, OMIM:600666;Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916 False 3 100;0;0 6.185 False ENSG00000089597 ENSG00000089597 HGNC:4138 GATA1 gene GATA1 Expert list;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835;Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083 10700180;33082562;20301538;30914438;29949202;35580337 False 3 100;0;0 6.185 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EMBERGER SYNDROME False 3 100;0;0 6.185 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255;Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797 False 3 100;0;0 6.185 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 2 False 3 100;0;0 6.185 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT 9;PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS;ATRIOVENTRICULAR SEPTAL DEFECT 5 False 3 100;0;0 6.185 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD2B gene GATAD2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NONSPECIFIC SEVERE ID;GAND syndrome, OMIM:615074 False 3 67;0;33 6.185 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATB gene GATB Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 30283131 False 3 100;0;0 6.185 False ENSG00000059691 ENSG00000059691 HGNC:8849 GBA gene GBA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GAUCHER DISEASE TYPE 3C;GAUCHER DISEASE TYPE 1;GAUCHER DISEASE PERINATAL LETHAL;GAUCHER DISEASE TYPE 3;GAUCHER DISEASE;GAUCHER DISEASE TYPE 2 30712880 False 3 100;0;0 6.185 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. False 3 100;0;0 6.185 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Fetal akinesia deformation sequence 21620786 False 3 100;0;0 6.185 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLUTARICACIDEMIA TYPE 1 False 3 100;0;0 6.185 False ENSG00000105607 ENSG00000105607 HGNC:4189 GDF1 gene GDF1 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6, OMIM:613854;Right atrial isomerism (Ivemark), OMIM:208530 PMID: 20413652;28991257;17924340 False 3 100;0;0 6.185 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDF11 gene GDF11 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122 31215115;34113007 False 3 100;0;0 6.185 False ENSG00000135414 ENSG00000135414 HGNC:4216 GDF5 gene GDF5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal BRACHYDACTYLY TYPE C;SYMPHALANGISM PROXIMAL SYNDROME;DU PAN SYNDROME;BRACHYDACTYLY TYPE A1;ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE;ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE;BRACHYDACTYLY TYPE A2;MULTIPLE SYNOSTOSES SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA ISOLATED TYPE 4;KLIPPEL-FEIL SYNDROME TYPE 1;Syndromic CAKUT 32737436 False 3 100;0;0 6.185 False ENSG00000156466 ENSG00000156466 HGNC:4221 GEMIN4 gene GEMIN4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 39891418 False 3 100;0;0 6.185 False ENSG00000179409 ENSG00000179409 HGNC:15717 GFAP gene GFAP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALEXANDER DISEASE False 3 100;0;0 6.185 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 False 3 100;0;0 6.185 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542;Congenital myasthenic syndrome 12, MONDO:0012518 False 3 0;0;0 6.185 False ENSG00000198380 ENSG00000198380 HGNC:4241 GFRA1 gene GFRA1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal agenesis 33020172;34737117;36292572 False 3 67;33;0 6.185 False ENSG00000151892 ENSG00000151892 HGNC:4243 GHR gene GHR Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity, partial, OMIM:604271;Laron dwarfism, OMIM:262500 9360502 False 3 67;0;33 6.185 False ENSG00000112964 ENSG00000112964 HGNC:4263 GINS3 gene GINS3 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 3 100;0;0 6.185 False ENSG00000181938 ENSG00000181938 HGNC:25851 GJA1 gene GJA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA;HYPOPLASTIC LEFT HEART SYNDROME;AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA;HALLERMANN-STREIFF SYNDROME False 3 100;0;0 6.185 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA3 gene GJA3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 False 3 100;0;0 6.185 False ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT-MICROCORNEA SYNDROME;CATARACT ZONULAR PULVERULENT TYPE 1 False 3 100;0;0 6.185 False ENSG00000121634 ENSG00000121634 HGNC:4281 GJC2 gene GJC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal LYMPHEDEMA, HEREDITARY, IC;LEUKODYSTROPHY, HYPOMYELINATING, 2;SPASTIC PARAPLEGIA, 44 False 3 100;0;0 6.185 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;Other Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500 False 3 0;0;0 6.185 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GM1-GANGLIOSIDOSIS TYPE 1;GM1-GANGLIOSIDOSIS TYPE 2;GM1-GANGLIOSIDOSIS TYPE 3;MUCOPOLYSACCHARIDOSIS TYPE 4B False 3 100;0;0 6.185 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLDC-RELATED GLYCINE ENCEPHALOPATHY False 3 100;0;0 6.185 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLDN gene GLDN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lethal arthroogryposis False 3 100;0;0 6.185 False ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE False 3 100;0;0 6.185 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLI1 gene GLI1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A8, OMIM:618123;Polydactyly, postaxial, type A8, MONDO:0029130;Polydactyly, preaxial I, OMIM:174400;Preaxial polydactyly of fingers, MONDO:0017425 False 3 100;0;0 6.185 False ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLI2-RELATED HOLOPROSENCEPHALY False 3 100;0;0 6.185 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510;Polydactyly, postaxial, types A1 and B, OMIM:174200;Polydactyly, preaxial, type IV, OMIM:174700 False 3 100;0;0 6.185 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS3 gene GLIS3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM False 3 100;0;0 6.185 False ENSG00000107249 ENSG00000107249 HGNC:28510 GLUL gene GLUL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000135821 ENSG00000135821 HGNC:4341 GMNN gene GMNN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meier-Gorlin syndrome 6, OMIM:616835;Meier-Gorlin syndrome 6, MONDO:0014794 False 3 50;50;0 6.185 False ENSG00000112312 ENSG00000112312 HGNC:17493 GMPPB gene GMPPB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 False 3 100;0;0 6.185 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNAI2 gene GNAI2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic developmental disorder 39298586 False 3 100;0;0 6.185 False ENSG00000114353 ENSG00000114353 HGNC:4385 GNAI3 gene GNAI3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AURICULOCONDYLAR SYNDROME False 3 100;0;0 6.185 False ENSG00000065135 ENSG00000065135 HGNC:4387 GNAO1 gene GNAO1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY False 3 100;0;0 6.185 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAS gene GNAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia, OMIM:103580;pseudohypoparathyroidism type 1A, MONDO:0007078;Pseudohypoparathyroidism Ib, OMIM:603233;pseudohypoparathyroidism type 1B, MONDO:0011301;Pseudohypoparathyroidism Ic, OMIM:612462;pseudohypoparathyroidism type 1C, MONDO:0012911;McCune-Albright syndrome, somatic, mosaic, OMIM:174800;panostotic fibrous dysplasia, MONDO:0043168;Osseous heteroplasia, progressive, OMIM:166350;progressive osseous heteroplasia, MONDO:0008153;ACTH-independent macronodular adrenal hyperplasia. OMIM:219080;ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735;Pseudopseudohypoparathyroidism, OMIM:612463;pseudopseudohypoparathyroidism, MONDO:0012912 False 3 100;0;0 6.185 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNB1 gene GNB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 False 3 100;0;0 6.185 False ENSG00000078369 ENSG00000078369 HGNC:4396 GNB2 gene GNB2 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503 31698099;36658419;34183358 False 3 100;0;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172354 ENSG00000172354 HGNC:4398 GNPAT gene GNPAT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 False 3 100;0;0 6.185 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS TYPE II;MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A False 3 100;0;0 6.185 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C False 3 100;0;0 6.185 False ENSG00000090581 ENSG00000090581 HGNC:23026 GON4L gene GON4L Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Li-Takada-Miyake syndrome, OMIM:621212;Li-Takada-Miyake syndrome, MONDO:0978303 39500882 False 3 100;0;0 6.185 False ENSG00000116580 ENSG00000116580 HGNC:25973 GON7 gene GON7 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 9, OMIM:619603 False 3 100;0;0 6.185 False ENSG00000170270 ENSG00000170270 HGNC:20356 GORAB gene GORAB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum False 3 100;0;0 6.185 False ENSG00000120370 ENSG00000120370 HGNC:25676 GPC3 gene GPC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 False 3 100;0;0 6.185 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPC6 gene GPC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1, OMIM:258315;Autosomal recessive omodysplasia, MONDO:0009779 False 3 50;50;0 6.185 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPI gene GPI Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 False 3 100;0;0 6.185 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPKOW gene GPKOW Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities;microcephaly with intrauterine growth restriction 28612833;40221893 False 3 80;20;0 6.185 False ENSG00000068394 ENSG00000068394 HGNC:30677 GPSM2 gene GPSM2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHUDLEY-MCCULLOUGH SYNDROME False 3 100;0;0 6.185 False ENSG00000121957 ENSG00000121957 HGNC:29501 GPX4 gene GPX4 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220 24706940;32827718 False 3 50;50;0 6.185 False ENSG00000167468 ENSG00000167468 HGNC:4556 GREB1L gene GREB1L Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal hypodysplasia/aplasia 3, OMIM:617805;Renal agenesis, MONDO:0018470 29261186;29100091;31424080;32378186;31974414 False 3 100;0;0 6.185 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL3 gene GRHL3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VAN DER WOUDE SYNDROME False 3 100;0;0 6.185 False ENSG00000158055 ENSG00000158055 HGNC:25839 GRIN1 gene GRIN1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820;neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 False 3 100;0;0 6.185 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2B gene GRIN2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970;Developmental and epileptic encephalopathy 27, OMIM:616139 20890276;24272827;28377535;35238837;36758276 False 3 100;0;0 6.185 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIP1 gene GRIP1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000 22510445 False 3 100;0;0 6.185 False ENSG00000155974 ENSG00000155974 HGNC:18708 GRM7 gene GRM7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 32286009;32248644 False 3 100;0;0 6.185 False ENSG00000196277 ENSG00000196277 HGNC:4599 GSC gene GSC Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471;Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227 False 3 100;0;0 6.185 False ENSG00000133937 ENSG00000133937 HGNC:4612 GTF2H5 gene GTF2H5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY PHOTOSENSITIVE False 3 100;0;0 6.185 False ENSG00000272047 ENSG00000272047 HGNC:21157 GTF3C3 gene GTF3C3 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 False 3 100;0;0 6.185 False ENSG00000119041 ENSG00000119041 HGNC:4666 GTPBP2 gene GTPBP2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, OMIM:617988 29449720;30790272;26675814 False 3 100;0;0 6.185 False ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY False 3 100;0;0 6.185 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUCY2C gene GUCY2C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal MECONIUM ILEUS;FAMILIAL DIARRHEA DIARRHEA 6 False 3 100;0;0 6.185 False ENSG00000070019 ENSG00000070019 HGNC:4688 GUSB gene GUSB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 7 False 3 100;0;0 6.185 False ENSG00000169919 ENSG00000169919 HGNC:4696 GZF1 gene GZF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, OMIM:617662;Joint laxity, short stature, and myopia, MONDO:0060556 False 3 50;50;0 6.185 False ENSG00000125812 ENSG00000125812 HGNC:15808 H3F3A gene H3F3A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 33268356 False 3 67;0;33 6.185 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721 False 3 100;0;0 6.185 False ENSG00000132475 ENSG00000132475 HGNC:4765 HAAO gene HAAO Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1 617660 28792876 False 3 100;0;0 6.185 False ENSG00000162882 ENSG00000162882 HGNC:4796 HADHA gene HADHA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, OMIM:609015;Mitochondrial trifunctional protein deficiency, MONDO:0012172 False 3 100;0;0 6.185 False ENSG00000138029 ENSG00000138029 HGNC:4803 HBA1 gene HBA1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thalassemias, alpha-, OMIM:604131;Fatal hydrops fetalis;Hb Bart syndrome False 3 100;0;0 6.185 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thalassemias, alpha-, OMIM:604131;Fatal hydrops fetalis;Hb Bart syndrome False 3 100;0;0 6.185 False ENSG00000188536 ENSG00000188536 HGNC:4824 HCCS gene HCCS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA SYNDROMIC TYPE 7 30266093 False 3 100;0;0 6.185 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED 3;COBALAMIN DISORDER False 3 100;0;0 6.185 False ENSG00000172534 ENSG00000172534 HGNC:4839 HDAC3 gene HDAC3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder, MONDO:0700092 39047730 False 3 100;0;0 6.185 False ENSG00000171720 ENSG00000171720 HGNC:4854 HDAC8 gene HDAC8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) WILSON-TURNER SYNDROME;CORNELIA DE LANGE-LIKE SYNDROME False 3 100;0;0 6.185 False ENSG00000147099 ENSG00000147099 HGNC:13315 HECTD4 gene HECTD4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 36401616 False 3 100;0;0 6.185 False ENSG00000173064 ENSG00000173064 HGNC:26611 HERC2 gene HERC2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 38, OMIM:615516 False 3 100;0;0 6.185 False ENSG00000128731 ENSG00000128731 HGNC:4868 HES7 gene HES7 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive 613686 False 3 100;0;0 6.185 False ENSG00000179111 ENSG00000179111 HGNC:15977 HESX1 gene HESX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Septooptic dysplasia, OMIM:182230;Septooptic dysplasia, MONDO:0008428 False 3 50;50;0 6.185 False ENSG00000163666 ENSG00000163666 HGNC:4877 HHAT gene HHAT Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome, OMIM:600092 33749989;30912300;24784881 False 3 100;0;0 6.185 False ENSG00000054392 ENSG00000054392 HGNC:18270 HIBCH gene HIBCH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HIBCH DEFICIENCY False 3 100;0;0 6.185 False ENSG00000198130 ENSG00000198130 HGNC:4908 HIST1H1E gene HIST1H1E Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rahman syndrome, OMIM:617537;Rahman syndrome, MONDO:0044323 False 3 50;50;0 6.185 False ENSG00000168298 ENSG00000168298 HGNC:4718 HIVEP2 gene HIVEP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIVEP2 associated syndromic developmental delay with intellectual disability False 3 100;0;0 6.185 False ENSG00000010818 ENSG00000010818 HGNC:4921 HK1 gene HK1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hemolytic anemia due to hexokinase deficiency, OMIM:235700;Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 33082562 False 3 100;0;0 6.185 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMGA2 gene HMGA2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver-Russell syndrome 5, OMIM:618908;Silver-Russell syndrome 5, MONDO:0020795 25809938;28796236;29453418;29655892 False 3 100;0;0 6.185 False ENSG00000149948 ENSG00000149948 HGNC:5009 HMGB1 gene HMGB1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly;Neurodevelopmental disorder MONDO:0700092, HMGB1-related;intellectual disability;brachyphalangy, polydactyly and tibial aplasia syndrome 34164801;36755093;34164801;39635340 False 3 67;0;33 6.185 False ENSG00000189403 ENSG00000189403 HGNC:4983 HMX1 gene HMX1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, OMIM:612109 25574057;18423520 False 3 67;33;0 6.185 False ENSG00000215612 ENSG00000215612 HGNC:5017 HNF1B gene HNF1B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RENAL CYSTS AND DIABETES SYNDROME False 3 100;0;0 6.185 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY;HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 False 3 100;0;0 6.185 False ENSG00000101076 ENSG00000101076 HGNC:5024 HNRNPH1 gene HNRNPH1 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 False 3 100;0;0 6.185 False ENSG00000169045 ENSG00000169045 HGNC:5041 HNRNPH2 gene HNRNPH2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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, OMIM:300986 31236915;30887513;34907471;31670473;33728377 False 3 67;33;0 6.185 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPK gene HNRNPK DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Au-Kline syndrome, 616580 29904177;30998304;26173930;26954065;28771707 False 3 100;0;0 6.185 True ENSG00000165119 ENSG00000165119 HGNC:5044 HNRNPR gene HNRNPR Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 False 3 100;0;0 6.185 False ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 54, OMIM:617391 39237446;39965881;35138025;39976380 False 3 75;0;25 6.185 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOXA1 gene HOXA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BOSLEY-SALIH-ALORAINY SYNDROME;ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME False 3 100;0;0 6.185 False ENSG00000105991 ENSG00000105991 HGNC:5099 HOXA13 gene HOXA13 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HAND-FOOT-GENITAL SYNDROME False 3 100;0;0 6.185 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNPOLYDACTYLY 1;BRACHYDACTYLY TYPE D;BRACHYDACTYLY-SYNDACTYLY SYNDROME;BRACHYDACTYLY TYPE E;VACTERL ASSOCIATION;SYNDACTYLY TYPE 5 False 3 100;0;0 6.185 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPSE2 gene HPSE2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal UROFACIAL SYNDROME False 3 100;0;0 6.185 False ENSG00000172987 ENSG00000172987 HGNC:18374 HR gene HR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATRICHIA WITH PAPULAR LESIONS;ALOPECIA UNIVERSALIS False 3 100;0;0 6.185 False ENSG00000168453 ENSG00000168453 HGNC:5172 HRAS gene HRAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COSTELLO SYNDROME;CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 28425981 False 3 100;0;0 6.185 False ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal arthrogryposis;Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194;multiple congenital anomalies 33159882 False 3 100;0;0 6.185 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B3 gene HSD17B3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia 264300 False 3 100;0;0 6.185 False ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal D-BIFUNCTIONAL PROTEIN DEFICIENCY;PERRAULT SYNDROME False 3 100;0;0 6.185 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSF4 gene HSF4 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 5, multiple types, OMIM:116800 19014451;24045990;26490182;29243736;30143024 False 3 100;0;0 6.185 False ENSG00000102878 ENSG00000102878 HGNC:5227 HSPA9 gene HSPA9 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 4, OMIM:182170;Even-plus syndrome, OMIM:616854 26598328;26491070;32869452 False 3 100;0;0 6.185 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY HYPOMYELINATING TYPE 4 False 3 100;0;0 6.185 False ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 False 3 100;0;0 6.185 False ENSG00000142798 ENSG00000142798 HGNC:5273 HUWE1 gene HUWE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE False 3 100;0;0 6.185 False ENSG00000086758 ENSG00000086758 HGNC:30892 HYAL2 gene HYAL2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063 23172227;28081210;26515055;34906488 False 3 100;0;0 6.185 False ENSG00000068001 ENSG00000068001 HGNC:5321 HYLS1 gene HYLS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYDROLETHALUS SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 27426735 False 3 100;0;0 6.185 False ENSG00000196305 ENSG00000196305 HGNC:5330 IBA57 gene IBA57 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 23462291;33890810 False 3 100;0;0 6.185 False ENSG00000181873 ENSG00000181873 HGNC:27302 ICK gene ICK Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;24853502;27466187;27069622 False 3 100;0;0 6.185 False ENSG00000112144 ENSG00000112144 HGNC:21219 IDH1 gene IDH1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875;Maffucci syndrome 614569;Ollier disease/ Dyschondroplasia 166000 22025298;22057236;22057234;24049096 False 3 100;0;0 6.185 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDS gene IDS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MUCOPOLYSACCHARIDOSIS TYPE 2 False 3 100;0;0 6.185 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 1H;MUCOPOLYSACCHARIDOSIS TYPE 1H/S;MUCOPOLYSACCHARIDOSIS TYPE 1S False 3 100;0;0 6.185 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 614231 False 3 100;0;0 6.185 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, OMIM:615846;Singleton-Merten syndrome 1, OMIM:182250 25542954 False 3 100;0;0 6.185 False Other ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OSTEOGENESIS IMPERFECTA TYPE V False 3 100;0;0 6.185 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia type 1 OMIM:218330;cranioectodermal dysplasia 1 MONDO:0021093 20493458;24689072;26792575;29037998;23826986;33717254 False 3 100;0;0 6.185 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MAINZER-SALDINO SYNDROME False 3 100;0;0 6.185 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MAINZER-SALDINO SYNDROME;JEUNE SYNDROME False 3 100;0;0 6.185 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 25443296;37239474;24488770;30761183;26763875;2970430 False 3 75;25;0 6.185 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA TYPE 3 False 3 100;0;0 6.185 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) 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 26880018;27466190;27466190;30242358;31042281 False 3 100;0;0 6.185 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT57 gene IFT57 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl Syndrome False 3 100;0;0 6.185 False ENSG00000114446 ENSG00000114446 HGNC:17367 IFT74 gene IFT74 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 22, OMIM:617119;Joubert syndrome 40, OMIM:619582 32144365;27486776;33531668 False 3 100;0;0 6.185 False ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ASPHYXIATING THORACIC DYSTROPHY 2 False 3 100;0;0 6.185 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895;Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485 26275418;27666822;30080953;32783357 False 3 100;0;0 6.185 False ENSG00000122970 ENSG00000122970 HGNC:14313 IGF1 gene IGF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency, OMIM:608747 False 3 100;0;0 6.185 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, OMIM:270450 False 3 100;0;0 6.185 False ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME;BECKWITH-WIEDEMANN SYNDROME False 3 100;0;0 6.185 False ENSG00000167244 ENSG00000167244 HGNC:5466 IGHMBP2 gene IGHMBP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 False 3 100;0;0 6.185 False ENSG00000132740 ENSG00000132740 HGNC:5542 IHH gene IHH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia, OMIM:607778;Brachydactyly, type A1, OMIM:112500 False 3 100;0;0 6.185 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1;INCONTINENTIA PIGMENTI;ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA;ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED;IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA False 3 100;0;0 6.185 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Craniosynostosis;Crouzon-like craniosynostosis;Craniosynostosis and dental anomalies, 614188 False 3 100;0;0 6.185 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL1RAPL1 gene IL1RAPL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 21 False 3 100;0;0 6.185 False ENSG00000169306 ENSG00000169306 HGNC:5996 IL6ST gene IL6ST Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome 2, OMIM:619751 False 3 100;0;0 6.185 False ENSG00000134352 ENSG00000134352 HGNC:6021 IMPAD1 gene IMPAD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE False 3 100;0;0 6.185 False ENSG00000104331 ENSG00000104331 HGNC:26019 INPP4A gene INPP4A Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder False 3 100;0;0 6.185 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5E gene INPP5E Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS;JOUBERT SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPPL1 gene INPPL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OPSISMODYSPLASIA False 3 100;0;0 6.185 False ENSG00000165458 ENSG00000165458 HGNC:6080 INSR gene INSR Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DONOHUE SYNDROME 246200;Hyperinsulinemic hypoglycemia, familial, 5 609968;Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549;Rabson-Mendenhall syndrome 262190 False 3 100;0;0 6.185 False ENSG00000171105 ENSG00000171105 HGNC:6091 INTS1 gene INTS1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857 28542170;31428919;30622326 False 3 100;0;0 6.185 False ENSG00000164880 ENSG00000164880 HGNC:24555 INTS11 gene INTS11 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711;39030370 False 3 100;0;0 6.185 False ENSG00000127054 ENSG00000127054 HGNC:26052 INTU gene INTU Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 28289185;30266093;29451301 False 3 100;0;0 6.185 False ENSG00000164066 ENSG00000164066 HGNC:29239 INVS gene INVS Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2 602088 False 3 100;0;0 6.185 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5 609254 False 3 100;0;0 6.185 False ENSG00000173226 ENSG00000173226 HGNC:28949 IRF6 gene IRF6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown POPLITEAL PTERYGIUM SYNDROME;VAN DER WOUDE SYNDROME False 3 100;0;0 6.185 False ENSG00000117595 ENSG00000117595 HGNC:6121 IRX5 gene IRX5 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hamamy syndrome, OMIM:611174 22581230;34899143;29168297 False 3 67;33;0 6.185 False ENSG00000176842 ENSG00000176842 HGNC:14361 ISPD gene ISPD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WALKER WARBURG SYNDROME False 3 100;0;0 6.185 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA3 gene ITGA3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL False 3 100;0;0 6.185 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis Bullosa with Pyloric Atresia. 226730 False 3 100;0;0 6.185 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGA8 gene ITGA8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, OMIM:191830;Renal hypodysplasia/aplasia 1, MONDO:0024519 24439109 False 3 50;50;0 6.185 False ENSG00000077943 ENSG00000077943 HGNC:6144 ITGAV gene ITGAV Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal syndromic disease, MONDO:0002254 39526957 False 3 100;0;0 6.185 False ENSG00000138448 ENSG00000138448 HGNC:6150 ITGB4 gene ITGB4 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis Bullosa with Pyloric Atresia. 226730 False 3 100;0;0 6.185 False ENSG00000132470 ENSG00000132470 HGNC:6158 JAG1 gene JAG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALAGILLE SYNDROME False 3 100;0;0 6.185 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAM3 gene JAM3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730 23255084;21109224 False 3 67;33;0 6.185 False ENSG00000166086 ENSG00000166086 HGNC:15532 KANSL1 gene KANSL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHROMOSOME 17Q21.31 MICRODELETION SYNDROME False 3 100;0;0 6.185 False ENSG00000120071 ENSG00000120071 HGNC:24565 KAT6A gene KAT6A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 False 3 100;0;0 6.185 False ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE;GENITOPATELLAR SYNDROME False 3 100;0;0 6.185 False ENSG00000156650 ENSG00000156650 HGNC:17582 KATNB1 gene KATNB1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 3 100;0;0 6.185 False ENSG00000140854 ENSG00000140854 HGNC:6217 KCNC3 gene KCNC3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, OMIM:605259 20301404 False 3 67;33;0 6.185 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCNJ1 gene KCNJ1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bartter syndrome 241200 False 3 100;0;0 6.185 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ2 gene KCNJ2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 False 3 100;0;0 6.185 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ8 gene KCNJ8 DD-Gene2Phenotype;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cantu syndrome 25275207;24700710;24176758 False 3 50;50;0 6.185 False Other - please provide details in the comments ENSG00000121361 ENSG00000121361 HGNC:6269 KCNK3 gene KCNK3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related 36195757 False 3 100;0;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171303 ENSG00000171303 HGNC:6278 KCNK9 gene KCNK9 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Birk-Barel syndrome, OMIM:612292 36307859 False 3 67;33;0 6.185 False ENSG00000169427 ENSG00000169427 HGNC:6283 KCTD1 gene KCTD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCALP-EAR-NIPPLE SYNDROME False 3 100;0;0 6.185 False ENSG00000134504 ENSG00000134504 HGNC:18249 KDELR2 gene KDELR2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXI, OMIM:619131 33053334 False 3 100;0;0 6.185 False ENSG00000136240 ENSG00000136240 HGNC:6305 KDM2B gene KDM2B Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474 36322151 False 3 100;0;0 6.185 False ENSG00000089094 ENSG00000089094 HGNC:13610 KDM4B gene KDM4B Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 65, OMIM:619320 False 3 100;0;0 6.185 False ENSG00000127663 ENSG00000127663 HGNC:29136 KDM5C gene KDM5C Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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, Claes-Jensen type, OMIM:300534 10982473;15586325;16538222;16541399;18203167;18697827;19826449;21575681;26919706;32279304 False 3 100;0;0 6.185 False ENSG00000126012 ENSG00000126012 HGNC:11114 KDM6A gene KDM6A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) KABUKI SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0556 gene KIAA0556 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 26714646;27245168;31197031;31197031;36580738;40725402;40428346;32164589;30982090 False 3 75;0;25 6.185 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME False 3 100;0;0 6.185 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV, OMIM:617127;Orofaciodigital syndrome XV, MONDO:0014932 29138412;28220259;26643951 False 3 100;0;0 6.185 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIAA1109 gene KIAA1109 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Brain atrophy, Dandy Walker and Contractures;Alkuraya-Kucinskas syndrome, 617822 30485398;29290337;28749478 False 3 100;0;0 6.185 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296;cerebral ventriculomegaly;limb contractures 22048169;28934391;32909676;33205811 False 3 60;40;0 6.185 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF11 gene KIF11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY False 3 100;0;0 6.185 False ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, OMIM:617914;Microcephaly 20, primary, autosomal recessive, MONDO:0054761;Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419;30388224;28892560;29343805 False 3 100;0;0 6.185 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213;NESCAV SYNDROME, 614255 False 3 100;0;0 6.185 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME False 3 100;0;0 6.185 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF21A gene KIF21A Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis;fetal akinesia 32686171;34740919 False 3 100;0;0 6.185 False ENSG00000139116 ENSG00000139116 HGNC:19349 KIF22 gene KIF22 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 False 3 100;0;0 6.185 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIF24 gene KIF24 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal skeletal dysplasia, MONDO:0018230 35748595 False 3 100;0;0 6.185 False ENSG00000186638 ENSG00000186638 HGNC:19916 KIF26A gene KIF26A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156 36564622 False 3 100;0;0 6.185 False ENSG00000066735 ENSG00000066735 HGNC:20226 KIF2A gene KIF2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411;Complex cortical dysplasia with other brain malformations 3, MONDO:0014170 False 3 50;50;0 6.185 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF4A gene KIF4A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus;Intellectual developmental disorder, X-linked 100, OMIM:300923 34346154;30679815;24812067 False 3 100;0;0 6.185 False ENSG00000090889 ENSG00000090889 HGNC:13339 KIF5B gene KIF5B Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted kyphomelic dysplasia, MONDO:0008881 36018820;35342932 False 3 100;0;0 6.185 False ENSG00000170759 ENSG00000170759 HGNC:6324 KIF5C gene KIF5C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282;Complex cortical dysplasia with other brain malformations 2, MONDO:0014116 False 3 50;50;0 6.185 False ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION;ACROCALLOSAL SYNDROME False 3 100;0;0 6.185 False ENSG00000166813 ENSG00000166813 HGNC:30497 KLF1 gene KLF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type IV, OMIM:613673;Hydrops Fetalis 25724378;28361594 False 3 100;0;0 6.185 False Other ENSG00000105610 ENSG00000105610 HGNC:6345 KLHL40 gene KLHL40 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE False 3 100;0;0 6.185 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 615731 False 3 100;0;0 6.185 False ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PERCHING syndrome, OMIM:617055;PERCHING syndrome, MONDO:0014890 False 3 50;50;0 6.185 False ENSG00000122550 ENSG00000122550 HGNC:15646 KMT2A gene KMT2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wiedemann-Steiner syndrome, OMIM:605130 False 3 100;0;0 6.185 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2B gene KMT2B Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 68, OMIM:619934;Complex early-onset dystonia;Dystonia 28, childhood-onset, OMIM:617284 29276005;29697234;33150406 False 3 67;33;0 6.185 False ENSG00000272333 ENSG00000272333 HGNC:15840 KMT2C gene KMT2C Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY;Kleefstra syndrome 2 617768 29276005;22726846 False 3 100;0;0 6.185 False ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KABUKI SYNDROME False 3 100;0;0 6.185 False ENSG00000167548 ENSG00000167548 HGNC:7133 KNL1 gene KNL1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, OMIM:604321;Microcephaly 4, primary, autosomal recessive, MONDO:0011437 26626498;26621532;22983954 False 3 100;0;0 6.185 False ENSG00000137812 ENSG00000137812 HGNC:24054 KRAS gene KRAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME TYPE 3;CARDIOFACIOCUTANEOUS SYNDROME False 3 100;0;0 6.185 False ENSG00000133703 ENSG00000133703 HGNC:6407 KRIT1 gene KRIT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 28749478 False 3 100;0;0 6.185 False ENSG00000001631 ENSG00000001631 HGNC:1573 KYNU gene KYNU Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2 617661 28792876 False 3 100;0;0 6.185 False ENSG00000115919 ENSG00000115919 HGNC:6469 L1CAM gene L1CAM Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME;PARTIAL AGENESIS OF THE CORPUS CALLOSUM;HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS;SPASTIC PARAPLEGIA X-LINKED TYPE 1 28425981;30712878 False 3 100;0;0 6.185 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal L-2-HYDROXYGLUTARIC ACIDURIA False 3 100;0;0 6.185 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAGE3 gene LAGE3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked, OMIM:301006 31069511;28805828;36682911 False 3 100;0;0 6.185 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA1 gene LAMA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY;AUTOSOMAL RECESSIVE MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL MUSCULAR DYSTROPHY False 3 100;0;0 6.185 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA5 gene LAMA5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 26, OMIM:620049 32439764;35584218;35419533;36714636;37985485 False 3 100;0;0 6.185 False ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB1 gene LAMB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191;Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 False 3 50;50;0 6.185 False ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB2 gene LAMB2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, OMIM:609049 14136829;15372515;17256789 False 3 100;0;0 6.185 False ENSG00000172037 ENSG00000172037 HGNC:6487 LAMC3 gene LAMC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, OMIM:614115;occipital pachygyria and polymicrogyria, MONDO:0013583 21572413;26802095;29247375;30266093;33639934;34354730 False 3 100;0;0 6.185 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 False 3 100;0;0 6.185 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARP7 gene LARP7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALAZAMI SYNDROME False 3 100;0;0 6.185 False ENSG00000174720 ENSG00000174720 HGNC:24912 LARS2 gene LARS2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 26537577;32442335 False 3 50;50;0 6.185 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA False 3 100;0;0 6.185 False ENSG00000143815 ENSG00000143815 HGNC:6518 LDB1 gene LDB1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus, MONDO:0016349 39680505 False 3 100;0;0 6.185 False ENSG00000198728 ENSG00000198728 HGNC:6532 LEF1 gene LEF1 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 False 3 100;0;0 6.185 False ENSG00000138795 ENSG00000138795 HGNC:6551 LFNG gene LFNG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 False 3 100;0;0 6.185 False ENSG00000106003 ENSG00000106003 HGNC:6560 LGI3 gene LGI3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 35948005 False 3 100;0;0 6.185 False ENSG00000168481 ENSG00000168481 HGNC:18711 LGI4 gene LGI4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS MULTIPLEX CONGENITA False 3 100;0;0 6.185 False ENSG00000153902 ENSG00000153902 HGNC:18712 LHX3 gene LHX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 False 3 100;0;0 6.185 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000121454 ENSG00000121454 HGNC:21734 LIFR gene LIFR Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 28334964 False 3 100;0;0 6.185 False ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593 False 3 100;0;0 6.185 False ENSG00000174405 ENSG00000174405 HGNC:6601 LINC01081 gene LINC01081 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 19500772;23034409;24842713;27071622;36157490;40869921 False 3 100;0;0 6.185 False ENSG00000268754 ENSG00000268754 HGNC:49124 LINC01082 gene LINC01082 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 19500772;23034409;24842713;27071622;36157490;40869921 False 3 100;0;0 6.185 False ENSG00000269186 ENSG00000269186 HGNC:49125 LIPA gene LIPA Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal hydrops;Wolman disease, 278000;Lysosomal Acid Lipase Deficiency 12666227 False 3 100;0;0 6.185 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT2 gene LIPT2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 28757203;39536593 False 3 67;33;0 6.185 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBR1 gene LMBR1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Triphalangeal thumb-polysyndactyly syndrome 174500;Laurin-Sandrow syndrome 135750;Hypoplastic or aplastic tibia with polydactyly 188740;Syndactyly, type IV 186200;Triphalangeal thumb, type I 174500;Polydactyly, preaxial type II 174500;Acheiropody 200500 False 3 100;0;0 6.185 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMBRD1 gene LMBRD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF False 3 100;0;0 6.185 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal HUTCHINSON-GILFORD PROGERIA SYNDROME;MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;HEART-HAND SYNDROME SLOVENIAN TYPE;MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY;EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2;CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM;LETHAL TIGHT SKIN CONTRACTURE SYNDROME;CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1;FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2;LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B;CARDIOMYOPATHY DILATED TYPE 1A False 3 100;0;0 6.185 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB1 gene LMNB1 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 26, primary, autosomal dominant, OMIM:619179 33033404 False 3 100;0;0 6.185 False ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 27, primary, autosomal dominant, OMIM:619180;microcephaly 27, primary, autosomal dominant, MONDO:0030929 33033404;40011009 False 3 100;0;0 6.185 False ENSG00000176619 ENSG00000176619 HGNC:6638 LMOD2 gene LMOD2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2G, OMIM:619897 False 3 100;0;0 6.185 False ENSG00000170807 ENSG00000170807 HGNC:6648 LMOD3 gene LMOD3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 616165 False 3 100;0;0 6.185 False ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NAIL-PATELLA SYNDROME False 3 100;0;0 6.185 False ENSG00000136944 ENSG00000136944 HGNC:6654 LNPK gene LNPK Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 30032983;35599435;37794925 False 3 100;0;0 6.185 False ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, OMIM:600373;CODAS syndrome, MONDO:0010879 False 3 33;33;33 6.185 False ENSG00000196365 ENSG00000196365 HGNC:9479 LOX gene LOX Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Aortic aneurysm, familial thoracic 10, OMIM:617168 31742715;33866545 False 3 67;33;0 6.185 False ENSG00000113083 ENSG00000113083 HGNC:6664 LRP2 gene LRP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DONNAI-BARROW SYNDROME False 3 100;0;0 6.185 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CENANI-LENZ SYNDACTYLY SYNDROME False 3 100;0;0 6.185 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal VITREORETINOPATHY EXUDATIVE TYPE 4;OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME;ENDOSTEAL HYPEROSTOSIS WORTH TYPE;OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1;HIGH BONE MASS TRAIT False 3 100;0;0 6.185 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRRC32 gene LRRC32 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047 False 3 100;0;0 6.185 False ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC56 gene LRRC56 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39, OMIM:618254;Ciliary dyskinesia, primary, 39, MONDO:0032637 30388400 False 3 100;0;0 6.185 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DISKINESIA False 3 100;0;0 6.185 False ENSG00000129295 ENSG00000129295 HGNC:16725 LSM1 gene LSM1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FICUS syndrome, OMIM:621193 False 3 100;0;0 6.185 False ENSG00000175324 ENSG00000175324 HGNC:20472 LSS gene LSS Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, OMIM:618840;Cataract 44, OMIM:616509 39359128 False 3 100;0;0 6.185 False ENSG00000160285 ENSG00000160285 HGNC:6708 LTBP1 gene LTBP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE, OMIM:619451 33991472 False 3 100;0;0 6.185 False ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP3 gene LTBP3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA False 3 100;0;0 6.185 False ENSG00000168056 ENSG00000168056 HGNC:6716 LTBP4 gene LTBP4 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC 613177 False 3 100;0;0 6.185 False ENSG00000090006 ENSG00000090006 HGNC:6717 LYST gene LYST Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHEDIAK-HIGASHI SYNDROME False 3 100;0;0 6.185 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTFL1 gene LZTFL1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 615994 False 3 100;0;0 6.185 False ENSG00000163818 ENSG00000163818 HGNC:6741 LZTR1 gene LZTR1 Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fetal hydrops;Noonan syndrome 10, 616564 False 3 100;0;0 6.185 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAB21L1 gene MAB21L1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479 30487245 False 3 100;0;0 6.185 False ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal MICROPHTHALMIA, SYNDROMIC 14 False 3 100;0;0 6.185 False ENSG00000181541 ENSG00000181541 HGNC:6758 MACF1 gene MACF1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 9 with complex brainstem malformation, OMIM:618325;Lissencephaly 9 with complex brainstem malformation, MONDO:0032677 30471716 False 3 100;0;0 6.185 False ENSG00000127603 ENSG00000127603 HGNC:13664 MAF gene MAF Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES;CATARACT CONGENITAL CERULEAN TYPE 4;CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED False 3 100;0;0 6.185 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAFB gene MAFB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects;MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME False 3 100;0;0 6.185 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAGED2 gene MAGED2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Bartter syndrome, type 5, antenatal, transient, OMIM:300971 False 3 100;0;0 6.185 False ENSG00000102316 ENSG00000102316 HGNC:16353 MAGEL2 gene MAGEL2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome;ARTHROGRYPOSIS MULTIPLEX CONGENITA;Schaaf-Yang syndrome, 615547 26365340;27195816;26365340 False 3 100;0;0 6.185 False ENSG00000254585 ENSG00000254585 HGNC:6814 MAN2C1 gene MAN2C1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, OMIM:619775 35045343 False 3 100;0;0 6.185 False ENSG00000140400 ENSG00000140400 HGNC:6827 MAP2K1 gene MAP2K1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME False 3 100;0;0 6.185 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME False 3 100;0;0 6.185 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K1 gene MAP3K1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY SEX REVERSAL 6 False 3 100;0;0 6.185 False ENSG00000095015 ENSG00000095015 HGNC:6848 MAP3K20 gene MAP3K20 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760;Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695;Split-foot malformation with mesoaxial polydactyly, OMIM:616890;Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 26755636;27816943 False 3 100;0;0 6.185 False ENSG00000091436 ENSG00000091436 HGNC:17797 MAP3K7 gene MAP3K7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiospondylocarpofacial syndrome, OMIM:157800;Cardiospondylocarpofacial syndrome, MONDO:0008005;Frontometaphyseal dysplasia 2, OMIM:617137;Frontometaphyseal dysplasia 2, MONDO:0014935 False 3 50;50;0 6.185 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAP4K4 gene MAP4K4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060, MAP4K4-related 37126546 False 3 100;0;0 6.185 False ENSG00000071054 ENSG00000071054 HGNC:6866 MAPK1 gene MAPK1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 13, OMIM:619087 32721402;40257485 False 3 75;25;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100030 ENSG00000100030 HGNC:6871 MAPK8IP3 gene MAPK8IP3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted polymicrogyria;cerebral atrophy;corpus callosum anomalies;Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 30945334;30612693 False 3 67;33;0 6.185 False ENSG00000138834 ENSG00000138834 HGNC:6884 MAPKAPK5 gene MAPKAPK5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, OMIM:619869 35575217;33442026 False 3 100;0;0 6.185 False ENSG00000089022 ENSG00000089022 HGNC:6889 MAPRE2 gene MAPRE2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, 616734 26637975;31903734;31502381 False 3 100;0;0 6.185 False ENSG00000166974 ENSG00000166974 HGNC:6891 MASP1 gene MASP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000127241 ENSG00000127241 HGNC:6901 MAST1 gene MAST1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cortical malformations;Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273;Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827;cerebellar hypoplasia;corpus callosum anomalies 32818970;32198973;31721002;30449657 False 3 67;33;0 6.185 False ENSG00000105613 ENSG00000105613 HGNC:19034 MATN3 gene MATN3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 False 3 100;0;0 6.185 False ENSG00000132031 ENSG00000132031 HGNC:6909 MAX gene MAX Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, OMIM:620712 38141607 False 3 100;0;0 6.185 False ENSG00000125952 ENSG00000125952 HGNC:6913 MBTPS2 gene MBTPS2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Keratosis follicularis spinulosa decalvans, X-linked 308800;IFAP syndrome with or without BRESHECK syndrome 308205 False 3 100;0;0 6.185 False ENSG00000012174 ENSG00000012174 HGNC:15455 MCIDAS gene MCIDAS Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;Ciliary dyskinesia, primary, 42, OMIM:618695;Choroid plexus hyperplasia;Arachnoid cyst 25048963;32802948;30237576 False 3 100;0;0 6.185 False ENSG00000234602 ENSG00000234602 HGNC:40050 MCOLN1 gene MCOLN1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS IV False 3 100;0;0 6.185 False ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 1 False 3 100;0;0 6.185 False ENSG00000147316 ENSG00000147316 HGNC:6954 MDFIC gene MDFIC Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 12, OMIM:620014 35235341 False 3 100;0;0 6.185 False ENSG00000135272 ENSG00000135272 HGNC:28870 MECOM gene MECOM Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 29540340;26581901 False 3 67;33;0 6.185 False ENSG00000085276 ENSG00000085276 HGNC:3498 MED11 gene MED11 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 36001086;39578696 False 3 100;0;0 6.185 False ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) LUJAN-FRYNS SYNDROME;OPITZ-KAVEGGIA SYNDROME False 3 100;0;0 6.185 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED13L gene MED13L Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 32058062;33142350 False 3 67;33;0 6.185 False ENSG00000123066 ENSG00000123066 HGNC:22962 MED25 gene MED25 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 32324310;25792360;32816121 False 3 100;0;0 6.185 False ENSG00000104973 ENSG00000104973 HGNC:28845 MED27 gene MED27 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286 33443317 False 3 100;0;0 6.185 False ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS False 3 100;0;0 6.185 False ENSG00000081189 ENSG00000081189 HGNC:6996 MEGF10 gene MEGF10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA False 3 100;0;0 6.185 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CARPENTER SYNDROME False 3 100;0;0 6.185 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEIS2 gene MEIS2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, cardiac defects, and mental retardation, OMIM:600987;Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 27225850;24678003;25712757;30291340;30055086 False 3 100;0;0 6.185 False ENSG00000134138 ENSG00000134138 HGNC:7001 MEOX1 gene MEOX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2, OMIM:214300;Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 False 3 50;50;0 6.185 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XX, OMIM:618644;Osteogenesis imperfecta, type 20, MONDO:0032846 31564437 False 3 100;0;0 6.185 False ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 False 3 100;0;0 6.185 False ENSG00000188095 ENSG00000188095 HGNC:29659 MFRP gene MFRP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NANOPHTHALMOS 2;MICROPHTHALMIA ISOLATED TYPE 5 False 3 100;0;0 6.185 False ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD2A gene MFSD2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 False 3 100;0;0 6.185 False ENSG00000168389 ENSG00000168389 HGNC:25897 MGP gene MGP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal KEUTEL SYNDROME False 3 100;0;0 6.185 False ENSG00000111341 ENSG00000111341 HGNC:7060 MIA3 gene MIA3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 32101163;40119123;33778321;40130161 False 3 100;0;0 6.185 False ENSG00000154305 ENSG00000154305 HGNC:24008 MID1 gene MID1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females OPITZ G/BBB SYNDROME, X-LINKED False 3 100;0;0 6.185 False ENSG00000101871 ENSG00000101871 HGNC:7095 MINPP1 gene MINPP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 16, OMIM:619527 33168985;33257696 False 3 100;0;0 6.185 False ENSG00000107789 ENSG00000107789 HGNC:7102 MKKS gene MKKS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 6;MCKUSICK-KAUFMAN SYNDROME False 3 100;0;0 6.185 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 13;MECKEL SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS False 3 100;0;0 6.185 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MALONYL-COA DECARBOXYLASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMACHC gene MMACHC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE False 3 100;0;0 6.185 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD False 3 100;0;0 6.185 False ENSG00000168288 ENSG00000168288 HGNC:25221 MMP13 gene MMP13 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal METAPHYSEAL ANADYSPLASIA TYPE 1;SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE False 3 100;0;0 6.185 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP21 gene MMP21 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MMP21-associated heterotaxy False 3 100;0;0 6.185 False ENSG00000154485 ENSG00000154485 HGNC:14357 MN1 gene MN1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEBALID syndrome, OMIM:618774;CEBALID syndrome, MONDO:0032908 31834374;31839203;15870292 False 3 100;0;0 6.185 False Other ENSG00000169184 ENSG00000169184 HGNC:7180 MNS1 gene MNS1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948;Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive) 30148830;31534215 False 3 50;50;0 6.185 False ENSG00000138587 ENSG00000138587 HGNC:29636 MNX1 gene MNX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CURRARINO SYNDROME False 3 100;0;0 6.185 False ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MOLYBDENUM COFACTOR DEFICIENCY False 3 100;0;0 6.185 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MOLYBDENUM COFACTOR DEFICIENCY False 3 100;0;0 6.185 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, OMIM:606056;MOGS-CDG, MONDO:0011629 False 3 50;50;0 6.185 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180 False 3 100;0;0 6.185 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPDZ gene MPDZ Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 29499638;30518636;23240096;28556411 False 3 100;0;0 6.185 False ENSG00000107186 ENSG00000107186 HGNC:7208 MPLKIP gene MPLKIP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 False 3 100;0;0 6.185 False ENSG00000168303 ENSG00000168303 HGNC:16002 MRAS gene MRAS Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 11, OMIM:618499;Noonan syndrome 11, MONDO:0032786 28289718;31173466;31108500;31173466 False 3 100;0;0 6.185 False ENSG00000158186 ENSG00000158186 HGNC:7227 MRPS22 gene MRPS22 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 28425981 False 3 100;0;0 6.185 False ENSG00000175110 ENSG00000175110 HGNC:14508 MSL2 gene MSL2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985 38815585;33057194;31332282 False 3 100;0;0 6.185 False ENSG00000174579 ENSG00000174579 HGNC:25544 MSL3 gene MSL3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MSL3 syndrome;Basilicata-Akhtar syndrome, 301032 30224647 False 3 100;0;0 6.185 False ENSG00000005302 ENSG00000005302 HGNC:7370 MSMO1 gene MSMO1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 21285510;24144731 False 3 100;0;0 6.185 False ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 Expert list;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675;Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 31463572;37431817;28554942;29339779;28544275;30684668;31130378;31604776 False 3 100;0;0 6.185 False ENSG00000125459 ENSG00000125459 HGNC:29678 MSX1 gene MSX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 5, OMIM:608874 False 3 100;0;0 6.185 False ENSG00000163132 ENSG00000163132 HGNC:7391 MSX2 gene MSX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM;CRANIOSYNOSTOSIS, TYPE 2 False 3 100;0;0 6.185 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTFMT gene MTFMT Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, OMIM:614947;Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248 27393152;30911575 False 3 100;0;0 6.185 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTM1 gene MTM1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Myopathy, centronuclear, X-linked, OMIM:310400 False 3 100;0;0 6.185 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTO1 gene MTO1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS False 3 100;0;0 6.185 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Kingsmore syndrome False 3 100;0;0 6.185 False ENSG00000198793 ENSG00000198793 HGNC:3942 MUSK gene MUSK Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency False 3 100;0;0 6.185 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYBBP1A gene MYBBP1A Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis, MONDO:0009369 39191491;28425981 False 3 100;0;0 6.185 False ENSG00000132382 ENSG00000132382 HGNC:7546 MYBPC1 gene MYBPC1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lethal congenital contracture syndrome 4 614915;Arthrogryposis, distal, type 1B 614335 False 3 100;0;0 6.185 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYCN gene MYCN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEINGOLD SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYH10 gene MYH10 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYH10-related Multiple congenital anomalies;Bilateral ventriculomegaly;aqueductal stenosis 30712878 False 3 100;0;0 6.185 False ENSG00000133026 ENSG00000133026 HGNC:7568 MYH11 gene MYH11 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) 25407000;29575632;31427716 False 3 100;0;0 6.185 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYH2 gene MYH2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, OMIM:605637;Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 11114175;23489661;15548556;23388406;20418530;24193343 False 3 100;0;0 6.185 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD);Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD);Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD);Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR) 16642020;18695058;19684571;29314551;29805041;30266093;38856159 False 3 100;0;0 6.185 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH6 gene MYH6 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATRIAL SEPTAL DEFECT TYPE 3;CARDIOMYOPATHY DILATED TYPE 1EE;CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 False 3 100;0;0 6.185 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050;Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647;Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Left ventricular noncompaction 5, OMIM:613426 22859017;25547560;26337809 False 3 100;0;0 6.185 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH8 gene MYH8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DISTAL ARTHROGRYPOSIS TYPE;CARNEY COMPLEX VARIANT False 3 100;0;0 6.185 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYL1 gene MYL1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) 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 3 100;0;0 6.185 False ENSG00000168530 ENSG00000168530 HGNC:7582 MYL9 gene MYL9 Expert list;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365 29453416;33031641;32621347;33264186 False 3 67;0;33 6.185 False ENSG00000101335 ENSG00000101335 HGNC:15754 MYLPF gene MYLPF Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 1C, OMIM:617378 False 3 100;0;0 6.185 False ENSG00000180209 ENSG00000180209 HGNC:29824 MYMK gene MYMK Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 3 100;0;0 6.185 False ENSG00000187616 ENSG00000187616 HGNC:33778 MYO18B gene MYO18B Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549;Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 27879346;27858739;25748484 False 3 100;0;0 6.185 False ENSG00000133454 ENSG00000133454 HGNC:18150 MYO9A gene MYO9A Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198;Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 29462312;27259756;26752647 False 3 100;0;0 6.185 False ENSG00000066933 ENSG00000066933 HGNC:7608 MYOCD gene MYOCD Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 100;0;0 6.185 False ENSG00000141052 ENSG00000141052 HGNC:16067 MYOD1 gene MYOD1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 26733463;30403323;31260566 False 3 100;0;0 6.185 False ENSG00000129152 ENSG00000129152 HGNC:7611 MYPN gene MYPN Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 11, autosomal recessive, 617336 False 3 100;0;0 6.185 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYRF gene MYRF Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac-urogenital syndrome, 618280;Congenital diaphragmatic hernia (CDH);Disorders of sex development (DSD) 30532227;30985895;31069960;30070761;29446546 False 3 100;0;0 6.185 False ENSG00000124920 ENSG00000124920 HGNC:1181 MYT1 gene MYT1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculo-auriculo-vertebral spectrum (OAVS);OAVS/Goldenhar syndrome 27358179;28612832 False 3 100;0;0 6.185 False Other ENSG00000196132 ENSG00000196132 HGNC:7622 NAA10 gene NAA10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked anophthalmia syndrome/Lenz;OGDEN SYNDROME;NONPECIFIC SEVERE ID;X-linked anophthalmia syndrome False 3 100;0;0 6.185 False ENSG00000102030 ENSG00000102030 HGNC:18704 NACC1 gene NACC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Infantile Epilepsy, Cataracts, and Profound Developmental Delay False 3 100;0;0 6.185 False ENSG00000160877 ENSG00000160877 HGNC:20967 NADSYN1 gene NADSYN1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845;Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 False 3 100;0;0 6.185 False ENSG00000172890 ENSG00000172890 HGNC:29832 NAGA gene NAGA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SCHINDLER DISEASE;KANZAKI DISEASE False 3 100;0;0 6.185 False ENSG00000198951 ENSG00000198951 HGNC:7631 NALCN gene NALCN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY;HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES;CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY False 3 100;0;0 6.185 False ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal infantile-onset severe developmental delay and skeletal dysplasia False 3 100;0;0 6.185 False ENSG00000095380 ENSG00000095380 HGNC:19237 NBAS gene NBAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD False 3 100;0;0 6.185 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NIJMEGEN BREAKAGE SYNDROME False 3 100;0;0 6.185 False ENSG00000104320 ENSG00000104320 HGNC:7652 NDE1 gene NDE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LISSENCEPHALY 4 False 3 100;0;0 6.185 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females NORRIE DISEASE 30125416 False 3 50;50;0 6.185 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA6 gene NDUFA6 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 100;0;0 6.185 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFAF5 gene NDUFAF5 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 618238 18940309;30266093;21620786 False 3 100;0;0 6.185 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF8 gene NDUFAF8 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 31866046 False 3 100;0;0 6.185 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;31130284 False 3 67;33;0 6.185 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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, OMIM:301021;Linear skin defects with multiple congenital anomalies 3, OMIM:300952;Cardiomyopathy;Agenesis of corpus callosum (ACC) 25772934 False 3 75;25;0 6.185 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 27091925;22277967 False 3 100;0;0 6.185 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 27626371;40025060;33502047 False 3 50;50;0 6.185 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFS1 gene NDUFS1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 20382551;31557978 False 3 67;0;33 6.185 False ENSG00000023228 ENSG00000023228 HGNC:7707 NEB gene NEB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY False 3 100;0;0 6.185 False ENSG00000183091 ENSG00000183091 HGNC:7720 NECTIN1 gene NECTIN1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060;Orofacial cleft 7, OMIM:225060 False 3 100;0;0 6.185 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 False 3 100;0;0 6.185 False ENSG00000143217 ENSG00000143217 HGNC:19688 NEDD4L gene NEDD4L Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periventricular nodular heterotopia 7, OMIM:617201;Periventricular nodular heterotopia 7, MONDO:0014966 False 3 50;50;0 6.185 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEK1 gene NEK1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHORT RIB-POLYDACTYLY SYNDORME, TYPE II;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 False 3 100;0;0 6.185 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Nephronophthisis 9, OMIM:613824;Nephronophthisis 9, MONDO:0013444;Renal-hepatic-pancreatic dysplasia 2, OMIM:615415;Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174 18199800;23418306;26967905;26697755;26862157 False 3 50;50;0 6.185 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEK9 gene NEK9 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262;Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660;Lethal congenital contracture syndrome 10, OMIM:617022;NEK9-related lethal skeletal dysplasia, MONDO:0014870 26908619;21271645;26633546;32333414 False 3 50;50;0 6.185 False ENSG00000119638 ENSG00000119638 HGNC:18591 NEPRO gene NEPRO Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 3, OMIM:618853 29620724;31250547;37294112;26633546 False 3 100;0;0 6.185 False ENSG00000163608 ENSG00000163608 HGNC:24496 NEU1 gene NEU1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550 False 3 100;0;0 6.185 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXN gene NEXN Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy;Cardiomyopathy, dilated, 1CC, OMIM:613122;Cardiomyopathy, hypertrophic, 20, OMIM:613876 39183344;33947203;33949776;33027564;35166435;32058062 False 3 60;40;0 6.185 False ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROFIBROMATOSIS-NOONAN SYNDROME;FAMILIAL SPINAL NEUROFIBROMATOSIS;NEUROFIBROMATOSIS TYPE 1;WATSON SYNDROME False 3 100;0;0 6.185 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIA gene NFIA Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects, OMIM:613735 32926563;35018717;36553517;33973697 False 3 100;0;0 6.185 False ENSG00000162599 ENSG00000162599 HGNC:7784 NFIB gene NFIB Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development, OMIM:618286 30388402;32902921;33130023 False 3 100;0;0 6.185 False ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MARSHALL-SMITH SYNDROME;SOTOS-LIKE SYNDROME False 3 100;0;0 6.185 False ENSG00000008441 ENSG00000008441 HGNC:7788 NHEJ1 gene NHEJ1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 False 3 100;0;0 6.185 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHS gene NHS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females CATARACT CONGENITAL X-LINKED;NANCE-HORAN SYNDROME False 3 100;0;0 6.185 False ENSG00000188158 ENSG00000188158 HGNC:7820 NIPAL4 gene NIPAL4 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, OMIM:612281;Autosomal recessive congenital ichthyosis 6, MONDO:0012847 False 3 100;0;0 6.185 False ENSG00000172548 ENSG00000172548 HGNC:28018 NIPBL gene NIPBL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKX2-5 gene NKX2-5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS;TETRALOGY OF FALLOT;CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 False 3 100;0;0 6.185 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX3-2 gene NKX3-2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA False 3 100;0;0 6.185 False ENSG00000109705 ENSG00000109705 HGNC:951 NLRP3 gene NLRP3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CINCA syndrome, OMIM:607115 12928894;12483741;12032915 False 3 67;0;33 6.185 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOG gene NOG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY TYPE B2;SYMPHALANGISM PROXIMAL SYNDROME;MULTIPLE SYNOSTOSES SYNDROME TYPE 1;TARSAL-CARPAL COALITION SYNDROME;STAPES ANKYLOSIS WITH BROAD THUMB AND TOES False 3 100;0;0 6.185 False ENSG00000183691 ENSG00000183691 HGNC:7866 NONO gene NONO Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 34, OMIM:300967 27329731;32397791;26571461;31680349;27550220 False 3 40;60;0 6.185 False ENSG00000147140 ENSG00000147140 HGNC:7871 NOTCH1 gene NOTCH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS OLIVER SYNDROME;LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION False 3 100;0;0 6.185 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HAJDU-CHENEY SYNDROME False 3 100;0;0 6.185 False ENSG00000134250 ENSG00000134250 HGNC:7882 NOVA2 gene NOVA2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859;neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities 32197073 False 3 50;50;0 6.185 False ENSG00000104967 ENSG00000104967 HGNC:7887 NPC1 gene NPC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NIEMANN-PICK DISEASE, TYPE C1 False 3 100;0;0 6.185 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NIEMANN-PICK DISEASE, TYPE C2 False 3 100;0;0 6.185 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME TYPE 1;NEPHRONOPHTHISIS TYPE 1;JOUBERT SYNDROME TYPE 4 False 3 100;0;0 6.185 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MECKEL SYNDROME TYPE 7;RENAL-HEPATIC-PANCREATIC DYSPLASIA;NEPHRONOPHTHISIS TYPE 3 False 3 100;0;0 6.185 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS TYPE 4 False 3 100;0;0 6.185 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPR2 gene NPR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE False 3 100;0;0 6.185 False ENSG00000159899 ENSG00000159899 HGNC:7944 NR0B1 gene NR0B1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenal hypoplasia, congenital 300200;46XY sex reversal 2, dosage-sensitive 300018 False 3 100;0;0 6.185 False ENSG00000169297 ENSG00000169297 HGNC:7960 NR2F1 gene NR2F1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 40066675;32712214;31318166;36221391;32484994 False 3 75;0;25 6.185 False ENSG00000175745 ENSG00000175745 HGNC:7975 NR2F2 gene NR2F2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 False 3 100;0;0 6.185 False ENSG00000185551 ENSG00000185551 HGNC:7976 NR5A1 gene NR5A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY SEX REVERSAL 3;SPERMATOGENIC FAILURE 8 False 3 100;0;0 6.185 False ENSG00000136931 ENSG00000136931 HGNC:7983 NR6A1 gene NR6A1 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculovertebral syndrome, OMIM:621277 False 3 100;0;0 6.185 False ENSG00000148200 ENSG00000148200 HGNC:7985 NRAS gene NRAS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME TYPE 6 False 3 100;0;0 6.185 False ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WEAVER SYNDROME;BECKWITH-WIEDEMANN SYNDROME;SOTOS SYNDROME False 3 100;0;0 6.185 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome OMIM:619695 31171569;30345613 False 3 50;50;0 6.185 False ENSG00000109685 ENSG00000109685 HGNC:12766 NSDHL gene NSDHL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS;CK SYNDROME False 3 100;0;0 6.185 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001 34385670 False 3 100;0;0 6.185 False ENSG00000126653 ENSG00000126653 HGNC:25305 NSUN6 gene NSUN6 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 82, OMIM:620779 37226891 False 3 100;0;0 6.185 False ENSG00000241058 ENSG00000241058 HGNC:23529 NUBPL gene NUBPL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 6.185 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUDT2 gene NUDT2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844 38141063 False 3 100;0;0 6.185 False ENSG00000164978 ENSG00000164978 HGNC:8049 NUP107 gene NUP107 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME False 3 100;0;0 6.185 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 8, OMIM:618349 False 3 100;0;0 6.185 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP188 gene NUP188 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal microcephaly;ID;Sandestig-Stefanova syndrome, OMIM:618804;structural brain abnormalities;cataract 28726809;32021605;32275884 False 3 100;0;0 6.185 False ENSG00000095319 ENSG00000095319 HGNC:17859 NXN gene NXN Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2, OMIM:618529;Robinow syndrome, autosomal recessive 2, MONDO:0032800 False 3 100;0;0 6.185 False ENSG00000167693 ENSG00000167693 HGNC:18008 OBSL1 gene OBSL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-M SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000124006 ENSG00000124006 HGNC:29092 OCLN gene OCLN Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria 251290 False 3 100;0;0 6.185 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, OMIM:300555;Lowe syndrome, OMIM:309000 33517444 False 3 100;0;0 6.185 False ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bachmann-Bupp syndrome, OMIM:619075 40188065 False 3 100;0;0 6.185 False ENSG00000115758 ENSG00000115758 HGNC:8109 OFD1 gene OFD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) JOUBERT SYNDROME TYPE 10;SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2;ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPHN1 gene OPHN1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 False 3 100;0;0 6.185 False ENSG00000079482 ENSG00000079482 HGNC:8148 ORC1 gene ORC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690 False 3 100;0;0 6.185 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800 False 3 100;0;0 6.185 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803 False 3 100;0;0 6.185 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, OMIM:617729;Galloway-Mowat syndrome 3, MONDO:0033007 False 3 50;50;0 6.185 False ENSG00000092094 ENSG00000092094 HGNC:18028 OSTM1 gene OSTM1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteopetrosis 259720 False 3 100;0;0 6.185 False ENSG00000081087 ENSG00000081087 HGNC:21652 OTUD5 gene OTUD5 Expert Review;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 33131077;33523931 False 3 100;0;0 6.185 False ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD6B gene OTUD6B Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452 31147255;32924626;28343629 False 3 67;33;0 6.185 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTX2 gene OTX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA SYNDROMIC TYPE 5 False 3 100;0;0 6.185 False ENSG00000165588 ENSG00000165588 HGNC:8522 P3H1 gene P3H1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OSTEOGENESIS IMPERFECTA, TYPE VIII False 3 100;0;0 6.185 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cole-Carpenter syndrome 1, OMIM:112240;Cole-Carpenter syndrome 1, MONDO:0007204 False 3 50;50;0 6.185 False ENSG00000185624 ENSG00000185624 HGNC:8548 PACS1 gene PACS1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome, OMIM:615009 30712880;32672908;23159249;26842493 False 3 67;33;0 6.185 False ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 66, OMIM:618067 29656858;34894068;34859793 False 3 100;0;0 6.185 False ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 False 3 100;0;0 6.185 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAICS gene PAICS Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859;Polyhydramnios;multiple congenital abnormalities;early neonatal death 31178128;31600779;39726239;38179855;30758658 False 3 75;0;25 6.185 False ENSG00000128050 ENSG00000128050 HGNC:8587 PAK2 gene PAK2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch syndrome 2, OMIM:618458 39994693;40262506;33693784;38894571;37808560;39876536 False 3 100;0;0 6.185 False ENSG00000180370 ENSG00000180370 HGNC:8591 PAK3 gene PAK3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 30;AGENESIS OF THE CORPUS CALLOSUM 24556213 False 3 100;0;0 6.185 False ENSG00000077264 ENSG00000077264 HGNC:8592 PALB2 gene PALB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP N False 3 100;0;0 6.185 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAN2 gene PAN2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384 35304602;29620724 False 3 100;0;0 6.185 False ENSG00000135473 ENSG00000135473 HGNC:20074 PAPSS2 gene PAPSS2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE False 3 100;0;0 6.185 False ENSG00000198682 ENSG00000198682 HGNC:8604 PARN gene PARN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6 False 3 100;0;0 6.185 False ENSG00000140694 ENSG00000140694 HGNC:8609 PAX1 gene PAX1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, OMIM:615560 23851939;29681087;32111619 False 3 100;0;0 6.185 False ENSG00000125813 ENSG00000125813 HGNC:8615 PAX2 gene PAX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RENAL-COLOBOMA SYNDROME False 3 100;0;0 6.185 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG SYNDROME, TYPE 1;CRANIOFACIAL-DEAFNESS-HAND SYNDROME False 3 100;0;0 6.185 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COLOBOMA OF OPTIC NERVE;ANIRIDIA;BILATERAL OPTIC NERVE HYPOPLASIA;ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY;KERATITIS HEREDITARY;PETERS ANOMALY;FOVEAL HYPOPLASIA False 3 100;0;0 6.185 False ENSG00000007372 ENSG00000007372 HGNC:8620 PAX7 gene PAX7 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, OMIM:618578;Myopathy, congenital, progressive, with scoliosis, MONDO:0032821 False 3 100;0;0 6.185 False ENSG00000009709 ENSG00000009709 HGNC:8621 PAX8 gene PAX8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 False 3 100;0;0 6.185 False ENSG00000125618 ENSG00000125618 HGNC:8622 PBX1 gene PBX1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 False 3 100;0;0 6.185 False ENSG00000185630 ENSG00000185630 HGNC:8632 PC gene PC Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 30870574;29752808;34485016;10323732 False 3 67;0;33 6.185 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCDH12 gene PCDH12 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280 30178464;27164683 False 3 100;0;0 6.185 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCGF2 gene PCGF2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DUSBILITY;Craniofacial Neurological Cardiovascular and Skeletal Features;Intellectual disability 30526864 False 3 100;0;0 6.185 False ENSG00000056661 ENSG00000277258 HGNC:12929 PCNT gene PCNT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 False 3 100;0;0 6.185 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY False 3 100;0;0 6.185 False ENSG00000161217 ENSG00000161217 HGNC:8754 PDCD10 gene PDCD10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 False 3 100;0;0 6.185 False ENSG00000114209 ENSG00000114209 HGNC:8761 PDCD2 gene PDCD2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nonimmune hydrops fetalis;hydrops fetalis and early pregnancy loss 40208938 False 3 67;33;0 6.185 False ENSG00000071994 ENSG00000071994 HGNC:8762 PDE3A gene PDE3A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, OMIM:112410 25961942 False 3 100;0;0 6.185 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACRODYSOSTOSIS False 3 100;0;0 6.185 False ENSG00000113448 ENSG00000113448 HGNC:8783 PDGFRB gene PDGFRB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PREMATURE AGING SYNDROME, PENTTINEN TYPE;FAMILIAL INFANTILE MYOFIBROMATOSIS False 3 100;0;0 6.185 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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;X-LINKED LEIGH SYNDROME;PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES;INTELLECTUAL DISABILTIY 26865159 False 3 50;50;0 6.185 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 26865159 False 3 67;33;0 6.185 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 20002125;34873726 False 3 67;0;33 6.185 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDIA6 gene PDIA6 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay False 3 100;0;0 6.185 False ENSG00000143870 ENSG00000143870 HGNC:30168 PEPD gene PEPD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROLIDASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 25293719 False 3 67;33;0 6.185 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADRENOLEUKODYSTROPHY NEONATAL;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1;INFANTILE REFSUM DISEASE False 3 100;0;0 6.185 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADRENOLEUKODYSTROPHY NEONATAL;ZELLWEGER SYNDROME;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 False 3 100;0;0 6.185 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B False 3 100;0;0 6.185 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 False 3 100;0;0 6.185 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ADRENOLEUKODYSTROPHY NEONATAL;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 False 3 100;0;0 6.185 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K;ZELLWEGER SYNDROME False 3 100;0;0 6.185 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9;ZELLWEGER SYNDROME False 3 100;0;0 6.185 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 False 3 100;0;0 6.185 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5;ZELLWEGER SYNDROME;INFANTILE REFSUM DISEASE False 3 100;0;0 6.185 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8;ADRENOLEUKODYSTROPHY NEONATAL;ZELLWEGER SYNDROME;INFANTILE REFSUM DISEASE False 3 100;0;0 6.185 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12;ZELLWEGER SYNDROME False 3 100;0;0 6.185 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME;ADRENOLEUKODYSTROPHY NEONATAL;INFANTILE REFSUM DISEASE False 3 100;0;0 6.185 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617;Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 29220678 False 3 100;0;0 6.185 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11;RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1;REFSUM DISEASE False 3 100;0;0 6.185 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert list;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, OMIM:232800;Glycogen storage disease VII, MONDO:0009295 False 3 100;0;0 6.185 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAP1 gene PGAP1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802 24482476;25823418;25804403;26050939;24784135 False 3 67;33;0 6.185 False ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 False 3 100;0;0 6.185 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT False 3 100;0;0 6.185 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, OMIM:615816;PGM3-CDG, MONDO:0014353 28543917;24931394 False 3 50;0;50 6.185 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHF21A gene PHF21A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 31649809;30487643;22770980 False 3 67;33;0 6.185 False ENSG00000135365 ENSG00000135365 HGNC:24156 PHF5A gene PHF5A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PHF5A-related neurodevelopmental disorder with congenital malformations;neurodevelopmental disorder, MONDO:0700092 33811463;37422718 False 3 100;0;0 6.185 False ENSG00000100410 ENSG00000100410 HGNC:18000 PHF6 gene PHF6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Borjeson-Forssman-Lehmann syndrome, OMIM:301900 24092917;25099957 False 3 100;0;0 6.185 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE False 3 100;0;0 6.185 False ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY;NEU-LAXOVA SYNDROME False 3 100;0;0 6.185 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHIP gene PHIP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, ID, obesity and dysmorphic features False 3 100;0;0 6.185 False ENSG00000146247 ENSG00000146247 HGNC:15673 PHOX2B gene PHOX2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE;CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE False 3 100;0;0 6.185 False ENSG00000109132 ENSG00000109132 HGNC:9143 PI4K2A gene PI4K2A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 35880319;32418222;30564627 False 3 100;0;0 6.185 False ENSG00000155252 ENSG00000155252 HGNC:30031 PI4KA gene PI4KA Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 34415310;39891418 False 3 75;25;0 6.185 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIBF1 gene PIBF1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM:617767;Joubert syndrome 33, MONDO:0033311 False 3 100;0;0 6.185 False ENSG00000083535 ENSG00000083535 HGNC:23352 PIDD1 gene PIDD1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827 33414379;28397838;34163010;29302074 False 3 100;0;0 6.185 False ENSG00000177595 ENSG00000177595 HGNC:16491 PIEZO1 gene PIEZO1 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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;Congenital lymphatic dysplasia with hydrops and/or lymphoedema 26333996;23695678;28425981;30712880 False 3 50;50;0 6.185 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIEZO2 gene PIEZO2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ARTHROGRYPOSIS, DISTAL, TYPE 3;Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception False 3 100;0;0 6.185 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 False 3 100;0;0 6.185 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGG gene PIGG Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 26996948;34113002 False 3 60;40;0 6.185 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010 29603516;29573052;33156547;35445667 False 3 100;0;0 6.185 False ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879 False 3 100;0;0 6.185 False ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ZUNICH NEUROECTODERMAL SYNDROME False 3 100;0;0 6.185 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080;Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563 False 3 50;50;0 6.185 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 False 3 100;0;0 6.185 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 55, OMIM:617599 28334793;32042915;31139695 False 3 100;0;0 6.185 False ENSG00000185808 ENSG00000185808 HGNC:3046 PIGS gene PIGS Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 95, OMIM:618143 30269814;37035392;33410539 False 3 67;33;0 6.185 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 False 3 100;0;0 6.185 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 False 3 100;0;0 6.185 False ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025 40180615 False 3 100;0;0 6.185 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIH1D3 gene PIH1D3 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) 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 False 3 100;0;0 6.185 False ENSG00000080572 ENSG00000080572 HGNC:28570 PIK3C2A gene PIK3C2A Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, OMIM:618440;Oculocerebrodental syndrome, MONDO:0034145 False 3 100;0;0 6.185 False ENSG00000011405 ENSG00000011405 HGNC:8971 PIK3CA gene PIK3CA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3;CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI;HEMIMEGALENCEPHALY PIK3CA 28425981;30712880 False 3 100;0;0 6.185 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE;SHORT SYNDROME False 3 100;0;0 6.185 False ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 28425981 False 3 100;0;0 6.185 False ENSG00000105647 ENSG00000105647 HGNC:8980 PIP5K1C gene PIP5K1C Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3, OMIM:611369 38491417;17701898 False 3 100;0;0 6.185 False ENSG00000186111 ENSG00000186111 HGNC:8996 PITX1 gene PITX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800;Clubfoot, MONDO:0007342;Liebenberg syndrome, OMIM:186550;Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 False 3 50;50;0 6.185 False ENSG00000069011 ENSG00000069011 HGNC:9004 PITX2 gene PITX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RING DERMOID OF CORNEA;IRIDOGONIODYSGENESIS TYPE 2;AXENFELD-RIEGER SYNDROME TYPE 1;PETERS ANOMALY False 3 100;0;0 6.185 False ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS;CATARACT POSTERIOR POLAR TYPE 4;CATARACT AUTOSOMAL DOMINANT False 3 100;0;0 6.185 False ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1 gene PKD1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD) 20558538;23624871 False 3 100;0;0 6.185 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD1L1 gene PKD1L1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Laterality defects False 3 100;0;0 6.185 False ENSG00000158683 ENSG00000158683 HGNC:18053 PKD2 gene PKD2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 613095 False 3 100;0;0 6.185 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKDCC gene PKDCC Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Rhizomelic limb shortening with dysmorphic features, OMIM:618821 19097194;30478137 False 3 100;0;0 6.185 False ENSG00000162878 ENSG00000162878 HGNC:25123 PKHD1 gene PKHD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 100;0;0 6.185 False ENSG00000170927 ENSG00000170927 HGNC:9016 PKLR gene PKLR Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, OMIM:266200 False 3 100;0;0 6.185 False ENSG00000143627 ENSG00000143627 HGNC:9020 PLAA gene PLAA Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 31322726;38650658;28413018;28007986 False 3 60;40;0 6.185 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLAG1 gene PLAG1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver-Russell syndrome 4, OMIM:618907;Silver-russell syndrome 4, MONDO:0030118 False 3 100;0;0 6.185 False ENSG00000181690 ENSG00000181690 HGNC:9045 PLCB4 gene PLCB4 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal AURICULOCONDYLAR SYNDROME False 3 50;50;0 6.185 False ENSG00000101333 ENSG00000101333 HGNC:9059 PLD1 gene PLD1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 1, OMIM:212093;Congenital heart malformations 27799408;33142350;33645542;35380090;36923242;37770978;38171566;39553471;39681445 False 3 80;20;0 6.185 False ENSG00000075651 ENSG00000075651 HGNC:9067 PLEC gene PLEC Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723;Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950;Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138;Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670 28824526;31509265;22144912;21263134;21109228;20624679 False 3 100;0;0 6.185 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLG gene PLG Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, OMIM:217090;Dysplasminogenemia, OMIM:217090 False 3 100;0;0 6.185 False ENSG00000122194 ENSG00000122194 HGNC:9071 PLK4 gene PLK4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY False 3 100;0;0 6.185 False ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD1 gene PLOD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM False 3 100;0;0 6.185 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BRUCK SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLPBP gene PLPBP Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290 31741821;30668673;27912044 False 3 67;33;0 6.185 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Diaphragmatic hernia 5, X-linked, OMIM:306950 32655496;28777485;29736964;37751738;25209159;29884797;24088043 False 3 100;0;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000102024 ENSG00000102024 HGNC:9091 PLXNA1 gene PLXNA1 Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 False 3 100;0;0 6.185 False ENSG00000114554 ENSG00000114554 HGNC:9099 PLXND1 gene PLXND1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Truncus arteriosus, HP:0001660 35396997 False 3 100;0;0 6.185 False ENSG00000004399 ENSG00000004399 HGNC:9107 PMM2 gene PMM2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION False 3 100;0;0 6.185 False ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10;ATAXIA-OCULOMOTOR APRAXIA 4 False 3 100;0;0 6.185 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA1 gene PNPLA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 10, OMIM:615024;Autosomal recessive congenital ichthyosis 10, MONDO:0014011 False 3 50;50;0 6.185 False ENSG00000180316 ENSG00000180316 HGNC:21246 PNPLA8 gene PNPLA8 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, OMIM:251950 29681094;34177434 False 3 100;0;0 6.185 False ENSG00000135241 ENSG00000135241 HGNC:28900 POC1A gene POC1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME;PRIMORDIAL DWARFISM False 3 100;0;0 6.185 False ENSG00000164087 ENSG00000164087 HGNC:24488 POGZ gene POGZ Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000143442 ENSG00000143442 HGNC:18801 POLE gene POLE Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal IUGR;severe growth failure of prenatal onset;FILS syndrome, 615139;facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) 23230001;25948378 False 3 0;0;0 6.185 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLG2 gene POLG2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 False 3 100;0;0 6.185 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1A gene POLR1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type, OMIM:616462;Acrofacial dysostosis Cincinnati type, MONDO:0014651 False 3 50;50;0 6.185 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1B gene POLR1B Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome 4 OMIM:618939 31649276 False 3 100;0;0 6.185 False ENSG00000125630 ENSG00000125630 HGNC:20454 POLR1C gene POLR1C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TREACHER COLLINS SYNDROME TYPE 3 False 3 100;0;0 6.185 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TREACHER COLLINS SYNDROME TYPE 2 False 3 100;0;0 6.185 False ENSG00000186184 ENSG00000186184 HGNC:20422 POLR3A gene POLR3A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM;Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090 False 3 100;0;0 6.185 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 False 3 100;0;0 6.185 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 False 3 100;0;0 6.185 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WALKER WARBERG SYNDROME False 3 100;0;0 6.185 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249 23519211;24925318;24556084 False 3 100;0;0 6.185 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 False 3 100;0;0 6.185 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 False 3 100;0;0 6.185 False ENSG00000009830 ENSG00000009830 HGNC:19743 POP1 gene POP1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, OMIM:617396;Anauxetic dysplasia 2, MONDO:0054561 False 3 100;0;0 6.185 False ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 False 3 100;0;0 6.185 False ENSG00000127948 ENSG00000127948 HGNC:9208 PORCN gene PORCN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FOCAL DERMAL HYPOPLASIA False 3 100;0;0 6.185 False ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 False 3 100;0;0 6.185 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPFIA3 gene PPFIA3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paul-Chao neurodevelopmental syndrome, OMIM:621122 37034625;38508193;38723631;38181735 False 3 100;0;0 6.185 False ENSG00000177380 ENSG00000177380 HGNC:9247 PPFIBP1 gene PPFIBP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;37229200 False 3 100;0;0 6.185 False ENSG00000110841 ENSG00000110841 HGNC:9249 PPIB gene PPIB Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX 259440 False 3 100;0;0 6.185 False ENSG00000166794 ENSG00000166794 HGNC:9255 PPIL1 gene PPIL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 14, OMIM:619301 33220177 False 3 100;0;0 6.185 False ENSG00000137168 ENSG00000137168 HGNC:9260 PPP1CB gene PPP1CB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rasopathy with developmental delay, short stature and sparse slow-growing hair False 3 100;0;0 6.185 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R12A gene PPP1R12A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted disorder of sex development;holoprosencephaly;Intellectual disability;Genitourinary and/or brain malformation syndrome, OMIM:618820 31883643 False 3 50;0;50 6.185 False ENSG00000058272 ENSG00000058272 HGNC:7618 PPP1R21 gene PPP1R21 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 False 3 100;0;0 6.185 False ENSG00000162869 ENSG00000162869 HGNC:30595 PPP2CA gene PPP2CA Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354 30595372 False 3 100;0;0 6.185 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Houge-Janssens syndrome 2, OMIM:616362 False 3 100;0;0 6.185 False ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R3C gene PPP2R3C Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419 30893644;34714774;34750818 False 3 100;0;0 6.185 False ENSG00000092020 ENSG00000092020 HGNC:17485 PPP2R5D gene PPP2R5D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000112640 ENSG00000112640 HGNC:9312 PPP3CA gene PPP3CA Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 28942967;33082562;29432562 False 3 67;33;0 6.185 False ENSG00000138814 ENSG00000138814 HGNC:9314 PQBP1 gene PQBP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females RENPENNING S(YNDROME 1 False 3 100;0;0 6.185 False ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM13 gene PRDM13 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 17, OMIM:619909 False 3 100;0;0 6.185 False ENSG00000112238 ENSG00000112238 HGNC:13998 PRF1 gene PRF1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Aplastic anaemia, OMIM:609135;Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 19595804;26199792;30070073 False 3 100;0;0 6.185 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRG4 gene PRG4 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 False 3 100;0;0 6.185 False ENSG00000116690 ENSG00000116690 HGNC:9364 PRIM1 gene PRIM1 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism, MONDO:0017950;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005 33060134 False 3 100;0;0 6.185 False ENSG00000198056 ENSG00000198056 HGNC:9369 PRKACA gene PRKACA Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1, OMIM:619142 33058759;31130284 False 3 100;0;0 6.185 False ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, OMIM:619143 33058759 False 3 50;50;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 PRKAG2 gene PRKAG2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic 6, OMIM:600858;Hypertrophic cardiomyopathy 6, MONDO:0010946;Glycogen storage disease of heart, lethal congenital, OMIM:261740;Lethal congenital glycogen storage disease of heart, MONDO:0009867 False 3 100;0;0 6.185 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAR1A gene PRKAR1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACRODYSOSTOSIS False 3 100;0;0 6.185 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRKCI gene PRKCI Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Van der Woude syndrome, MONDO:0019508 False 3 100;0;0 6.185 False ENSG00000163558 ENSG00000163558 HGNC:9404 PRKD1 gene PRKD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic congenital heart defects 27479907;32817298;25713110;33919081 False 3 100;0;0 6.185 False ENSG00000184304 ENSG00000184304 HGNC:9407 PRMT7 gene PRMT7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudohypoparathyroidism-like disorder False 3 100;0;0 6.185 False ENSG00000132600 ENSG00000132600 HGNC:25557 PRR12 gene PRR12 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome, OMIM:619539;Complex microphthalmia 29556724;33314030 False 3 100;0;0 6.185 False ENSG00000126464 ENSG00000126464 HGNC:29217 PRRX1 gene PRRX1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agnathia-otocephaly complex, OMIM:202650 21294718;22211708;22674740;23444262 False 3 100;0;0 6.185 False ENSG00000116132 ENSG00000116132 HGNC:9142 PRSS56 gene PRSS56 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA ISOLATED TYPE 6 False 3 100;0;0 6.185 False ENSG00000237412 ENSG00000237412 HGNC:39433 PRUNE1 gene PRUNE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 26539891;28334956;33105479 False 3 50;50;0 6.185 False ENSG00000143363 ENSG00000143363 HGNC:13420 PSAP gene PSAP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATYPICAL KRABBE DISEASE False 3 100;0;0 6.185 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2, OMIM:616038;Neu-Laxova syndrome 2, MONDO:0014466 25152457;31903955 False 3 75;25;0 6.185 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSKH1 gene PSKH1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 39132680 False 3 100;0;0 6.185 False ENSG00000159792 ENSG00000159792 HGNC:9529 PSMF1 gene PSMF1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related 39148840 False 3 100;0;0 6.185 False ENSG00000125818 ENSG00000125818 HGNC:9571 PSPH gene PSPH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PHOSPHOSERINE PHOSPHATASE DEFICIENCY;NEU-LAXOVA False 3 100;0;0 6.185 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTBP1 gene PTBP1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder with skeletal dysplasia;Neurodevelopmental disorder, MONDO:0700092 40965981 False 3 100;0;0 6.185 False ENSG00000011304 ENSG00000011304 HGNC:9583 PTCH1 gene PTCH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 7, OMIM:610828 False 3 100;0;0 6.185 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTDSS1 gene PTDSS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM False 3 100;0;0 6.185 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTEN gene PTEN Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, OMIM:158350 40261085 False 3 75;0;25 6.185 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS;PANCREATIC AGENESIS False 3 100;0;0 6.185 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTH1R gene PTH1R Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal CHONDRODYSPLASIA BLOMSTRAND TYPE;EIKEN SKELETAL DYSPLASIA;JANSEN METAPHYSEAL CHONDRODYSPLASIA;PRIMARY FAILURE OF TOOTH ERUPTION False 3 100;0;0 6.185 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY, TYPE E2;CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS False 3 100;0;0 6.185 False ENSG00000087494 ENSG00000087494 HGNC:9607 PTPN11 gene PTPN11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD SYNDROME TYPE 1;NOONAN SYNDROME 1 28425981;30266093 False 3 100;0;0 6.185 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema, OMIM:613611;Lymphedema-posterior choanal atresia syndrome, MONDO:0013324 False 3 50;50;0 6.185 False ENSG00000152104 ENSG00000152104 HGNC:9647 PTPN23 gene PTPN23 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890 29899372;29090338;25558065;31395947;27848944 False 3 100;0;0 6.185 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000150787 ENSG00000150787 HGNC:9689 PUF60 gene PUF60 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PUF60 syndrome False 3 100;0;0 6.185 False ENSG00000179950 ENSG00000179950 HGNC:17042 PUM1 gene PUM1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719 30903679;29474920;25768905;35386260;31859446 False 3 100;0;0 6.185 False ENSG00000134644 ENSG00000134644 HGNC:14957 PUS3 gene PUS3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051 31444731;39891418;30308082;30697592;27055666 False 3 100;0;0 6.185 False ENSG00000110060 ENSG00000110060 HGNC:25461 PXDN gene PXDN Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400 31817535;24939590;32224865;21907015;32015378;32499604 False 3 67;33;0 6.185 False ENSG00000130508 ENSG00000130508 HGNC:14966 PYCR1 gene PYCR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB False 3 100;0;0 6.185 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGM gene PYGM Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal McArdle disease, OMIM:232600;Glycogen storage disease V, MONDO:0009293 False 3 100;0;0 6.185 False ENSG00000068976 ENSG00000068976 HGNC:9726 QRICH1 gene QRICH1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown QRICH1 syndrome False 3 100;0;0 6.185 False ENSG00000198218 ENSG00000198218 HGNC:24713 QRSL1 gene QRSL1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 29440775;30283131 False 3 100;0;0 6.185 False ENSG00000130348 ENSG00000130348 HGNC:21020 RAB11A gene RAB11A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly, HP:0000252;brain anomalies;Intellectual disability, HP:0001249 33875846;26902202 False 3 67;33;0 6.185 False Other ENSG00000103769 ENSG00000103769 HGNC:9760 RAB11B gene RAB11B Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 39502218;29106825 False 3 60;40;0 6.185 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME TYPE 3 False 3 100;0;0 6.185 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACROCEPHALOPOLYSYNDACTYLY TYPE 2 False 3 100;0;0 6.185 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB33B gene RAB33B Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2, OMIM:615222;Smith-McCort dysplasia 2, MONDO:0014087 False 3 100;0;0 6.185 False ENSG00000172007 ENSG00000172007 HGNC:16075 RAB34 gene RAB34 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XX, OMIM:620718 37619988;37384395 False 3 100;0;0 6.185 False ENSG00000109113 ENSG00000109113 HGNC:16519 RAB3GAP1 gene RAB3GAP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MARTSOLF SYNDROME False 3 100;0;0 6.185 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAC1 gene RAC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental Disorders with Diverse Phenotypes 30712878;28886345 False 3 100;0;0 6.185 False ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 30293988;29276006 False 3 100;0;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169750 ENSG00000169750 HGNC:9803 RAD21 gene RAD21 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COHESINOPATHY False 3 100;0;0 6.185 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAD50 gene RAD50 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, OMIM:613078;MONDO:0013118 33378670;32212377;19409520 False 3 100;0;0 6.185 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anaemia, complementation group R, OMIM:617244 30907510;26253028;26681308 False 3 67;33;0 6.185 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAF1 gene RAF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 5 False 3 100;0;0 6.185 False ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMITH-MAGENIS SYNDROME False 3 100;0;0 6.185 False ENSG00000108557 ENSG00000108557 HGNC:9834 RALA gene RALA Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311 False 3 100;0;0 6.185 False ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 False 3 100;0;0 6.185 False ENSG00000174373 ENSG00000174373 HGNC:17770 RAP1B gene RAP1B Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 35451551;37850357;26280580;32627184 False 3 67;0;33 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127314 ENSG00000127314 HGNC:9857 RAPSN gene RAPSN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FETAL AKINESIA DEFORMATION SEQUENCE;CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY False 3 100;0;0 6.185 False ENSG00000165917 ENSG00000165917 HGNC:9863 RARB gene RARB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA False 3 100;0;0 6.185 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARS2 gene RARS2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 6 26083569 False 3 100;0;0 6.185 False ENSG00000146282 ENSG00000146282 HGNC:21406 RASA1 gene RASA1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 1, OMIM:608354;capillary malformation-arteriovenous malformation 1, MONDO:0020783 False 3 100;0;0 6.185 False ENSG00000145715 ENSG00000145715 HGNC:9871 RAX gene RAX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604 30811539;18783408;14662654 False 3 100;0;0 6.185 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP5 gene RBBP5 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 39036895 False 3 100;0;0 6.185 False ENSG00000117222 ENSG00000117222 HGNC:9888 RBBP8 gene RBBP8 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 2, OMIM:606744;Seckel syndrome 2, MONDO:0011715 False 3 100;0;0 6.185 False ENSG00000101773 ENSG00000101773 HGNC:9891 RBM10 gene RBM10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, OMIM:311900;Tarp syndrome, MONDO:0010711 False 3 50;50;0 6.185 False ENSG00000182872 ENSG00000182872 HGNC:9896 RBM8A gene RBM8A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME False 3 100;0;0 6.185 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBP4 gene RBP4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, isolated, with coloboma 10, OMIM:616428 29178648;25910211 False 3 100;0;0 6.185 False ENSG00000138207 ENSG00000138207 HGNC:9922 RBPJ gene RBPJ Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS OLIVER SYNDROME 28160419;22883147 False 3 100;0;0 6.185 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;RAPADILINO syndrome, OMIM:266280;Rothmund-Thomson syndrome, type 2, OMIM:268400 False 3 100;0;0 6.185 False ENSG00000160957 ENSG00000160957 HGNC:9949 RELN gene RELN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LISSENCEPHALY 2 False 3 100;0;0 6.185 False ENSG00000189056 ENSG00000189056 HGNC:9957 REN gene REN Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis 267430 31736371 False 3 100;0;0 6.185 False ENSG00000143839 ENSG00000143839 HGNC:9958 RERE gene RERE Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenocopy of Proximal 1p36 Deletions False 3 100;0;0 6.185 False ENSG00000142599 ENSG00000142599 HGNC:9965 RET gene RET Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal RENAL AGENESIS;MULTIPLE ENDOCRINE NEOPLASIA IIB False 3 100;0;0 6.185 False ENSG00000165731 ENSG00000165731 HGNC:9967 RFT1 gene RFT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, OMIM:612015;RFT1-CDG, MONDO:0012783 False 3 50;50;0 6.185 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFWD3 gene RFWD3 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group W, OMIM:617784 2869192;38058754;28691929 False 3 67;0;33 6.185 False ENSG00000168411 ENSG00000168411 HGNC:25539 RFX6 gene RFX6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MARTINEZ-FRIAS SYNDROME False 3 100;0;0 6.185 False ENSG00000185002 ENSG00000185002 HGNC:21478 RHOBTB2 gene RHOBTB2 Expert Review Green Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 64, OMIM:618004 False 3 100;0;0 6.185 False ENSG00000008853 ENSG00000008853 HGNC:18756 RIPK4 gene RIPK4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 28425981 False 3 100;0;0 6.185 False ENSG00000183421 ENSG00000183421 HGNC:496 RIPPLY2 gene RIPPLY2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 6, OMIM:616566 26238661;25343988;32212228;33410135 False 3 100;0;0 6.185 False ENSG00000203877 ENSG00000203877 HGNC:21390 RIT1 gene RIT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 8 28425981;30712878 False 3 100;0;0 6.185 False ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tonne-Kalscheuer syndrome, OMIM:300978 29728705;25735484;25644381 False 3 67;33;0 6.185 False ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, OMIM:614922 25604853;27412952 False 3 67;33;0 6.185 False ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CARTILAGE-HAIR HYPOPLASIA False 3 100;0;0 6.185 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 4 False 3 100;0;0 6.185 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 False 3 100;0;0 6.185 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 3 False 3 100;0;0 6.185 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY False 3 100;0;0 6.185 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912;31793730;31880405 False 3 100;0;0 6.185 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF125 gene RNF125 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tenorio syndrome, OMIM:616260 25196541 False 3 100;0;0 6.185 False ENSG00000101695 ENSG00000101695 HGNC:21150 RNU12 gene RNU12 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations;CDAGS syndrome, OMIM:603116 34085356 False 3 100;0;0 6.185 False ENSG00000270022 ENSG00000276027 HGNC:19380 RNU4-2 gene RNU4-2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ReNU syndrome, OMIM:620851 38821540;38859706;38991538 False 3 100;0;0 6.185 False ENSG00000202538 ENSG00000202538 HGNC:10193 RNU4ATAC gene RNU4ATAC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 False 3 100;0;0 6.185 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU5B-1 gene RNU5B-1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302 40379786 False 3 100;0;0 6.185 False ENSG00000200156 ENSG00000200156 HGNC:10212 RNU7-1 gene RNU7-1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy 39031459;35320431;39332260;33230297;39748568 False 3 100;0;0 6.185 False ENSG00000238923 ENSG00000238923 HGNC:34033 ROBO1 gene ROBO1 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurooculorenal syndrome, OMIM:620305 35227688;28592524;28286008;28485101;30712880;29194579 False 3 100;0;0 6.185 False ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO3 gene ROBO3 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313;Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790 False 3 50;50;0 6.185 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROGDI gene ROGDI Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal KOHLSCHAYTTER-TANZ SYNDROME False 3 100;0;0 6.185 False ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1, OMIM:113000 (AD);Robinow syndrome, autosomal recessive, OMIM:268310 (AR) False 3 100;0;0 6.185 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MECKEL SYNDROME TYPE 5;COACH SYNDROME;JOUBERT SYNDROME TYPE 7 False 3 100;0;0 6.185 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL10 gene RPL10 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35, OMIM:300998;Intellectual disability, X-linked, syndromic, 35, MONDO:0030908 False 3 100;0;0 6.185 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPL11 gene RPL11 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 7 612562;Diamond-Blackfan anemia with cleft palate and abnormal thumbs False 3 100;0;0 6.185 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL13 gene RPL13 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728 31630789 False 3 100;0;0 6.185 False ENSG00000167526 ENSG00000167526 HGNC:10303 RPL15 gene RPL15 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 12, OMIM:615550;multiple congenital malformations;hydrops 23812780;20301769;29599205 False 3 100;0;0 6.185 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 11, OMIM:614900 22431104;39268718 False 3 100;0;0 6.185 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 5, OMIM:612528;Diamond-Blackfan anemia 5, MONDO:0012925 False 3 50;50;0 6.185 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 6 612561 False 3 100;0;0 6.185 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 9 613308 False 3 100;0;0 6.185 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4 612527 False 3 100;0;0 6.185 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPS19-RELATED DIAMOND-BLACKFAN ANEMIA False 3 100;0;0 6.185 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-blackfan anemia 3, OMIM:610629;Diamond-Blackfan anemia 3, MONDO:0012529 False 3 50;50;0 6.185 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 10 613309 False 3 100;0;0 6.185 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS6KA3 gene RPS6KA3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, OMIM:303600 False 3 100;0;0 6.185 False ENSG00000177189 ENSG00000177189 HGNC:10432 RPS7 gene RPS7 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 8, OMIM:612563;Diamond-Blackfan anemia 8, MONDO:0012939 False 3 100;0;0 6.185 False ENSG00000171863 ENSG00000171863 HGNC:10440 RRAGC gene RRAGC Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long-Olsen syndrome, OMIM:620609 27234373;37057673 False 3 100;0;0 6.185 False ENSG00000116954 ENSG00000116954 HGNC:19902 RRAS gene RRAS Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome, MONDO:0018997 34935735;32815881;24705357 False 3 75;25;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126458 ENSG00000126458 HGNC:10447 RRAS2 gene RRAS2 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 12, OMIM:618624;Noonan syndrome 12, MONDO:0032839 False 3 100;0;0 6.185 False ENSG00000133818 ENSG00000133818 HGNC:17271 RRM2B gene RRM2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial depletion syndrome False 3 100;0;0 6.185 False ENSG00000048392 ENSG00000048392 HGNC:17296 RSG1 gene RSG1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308 40593758 False 3 100;0;0 6.185 False ENSG00000132881 ENSG00000132881 HGNC:28127 RSPH4A gene RSPH4A Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary 612649 False 3 50;50;0 6.185 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary 612650 False 3 50;50;0 6.185 False ENSG00000172426 ENSG00000172426 HGNC:21057 RSPO2 gene RSPO2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Tetraamelia syndrome 2, OMIM:618021 29769720;32457899 False 3 100;0;0 6.185 False ENSG00000147655 ENSG00000147655 HGNC:28583 RSPRY1 gene RSPRY1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 26365341;38562122;30063090 False 3 67;33;0 6.185 False ENSG00000159579 ENSG00000159579 HGNC:29420 RTEL1 gene RTEL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 False 3 100;0;0 6.185 False ENSG00000258366 ENSG00000258366 HGNC:15888 RTTN gene RTTN Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BILATERAL DIFFUSE POLYMICROGYRIA False 3 100;0;0 6.185 False ENSG00000176225 ENSG00000176225 HGNC:18654 RUNX2 gene RUNX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLEIDOCRANIAL DYSPLASIA False 3 100;0;0 6.185 False ENSG00000124813 ENSG00000124813 HGNC:10472 RYR1 gene RYR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA False 3 100;0;0 6.185 False ENSG00000196218 ENSG00000196218 HGNC:10483 SALL1 gene SALL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TOWNES-BROCKS SYNDROME False 3 100;0;0 6.185 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DUANE-RADIAL RAY SYNDROME;ACRO-RENAL-OCULAR SYNDROME False 3 100;0;0 6.185 False ENSG00000101115 ENSG00000101115 HGNC:15924 SAMD9 gene SAMD9 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy 27182967;28346228 False 3 100;0;0 6.185 False Other ENSG00000205413 ENSG00000205413 HGNC:1348 SAMHD1 gene SAMHD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME False 3 100;0;0 6.185 False ENSG00000101347 ENSG00000101347 HGNC:15925 SART3 gene SART3 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis False 3 100;0;0 6.185 False ENSG00000075856 ENSG00000075856 HGNC:16860 SASS6 gene SASS6 Exper Review Amber;Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 14, primary, autosomal recessive, OMIM:616402 38501757;24951542;30639237;36739862 False 3 67;33;0 6.185 False ENSG00000156876 ENSG00000156876 HGNC:25403 SATB1 gene SATB1 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228 False 3 100;0;0 6.185 False ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NONSPECIFIC SEVERE ID;SYNDROMAL PIERRE ROBIN SEQUENCE;CLEFT PALATE ISOLATED False 3 100;0;0 6.185 False ENSG00000119042 ENSG00000119042 HGNC:21637 SBDS gene SBDS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHWACHMAN-DIAMOND SYNDROME False 3 100;0;0 6.185 False ENSG00000126524 ENSG00000126524 HGNC:19440 SC5D gene SC5D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LATHOSTEROLOSIS False 3 100;0;0 6.185 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fliedner-Zweier syndrome, OMIM:620511 32730804 False 3 100;0;0 6.185 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCARF2 gene SCARF2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal VAN DEN ENDE-GUPTA SYNDROME False 3 100;0;0 6.185 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCLT1 gene SCLT1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype;Oro-facio-digital syndrome type IX;Senior-L ken Syndrome 28005958;24285566;28486600;23348840;30425282 False 3 100;0;0 6.185 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCN1A gene SCN1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dravet syndrome, OMIM:607208;Arthrogryposis multiplex congenita 32928894;29543227 False 3 50;0;50 6.185 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NONSPECIFIC SEVERE ID;INFANTILE EPILEPTIC ENCEPHALOPATHY;BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 30712878 False 3 100;0;0 6.185 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 62, OMIM:617938;Epilepsy, familial focal, with variable foci 4, OMIM:617935;Intellectual disability;Malformations of cortical development 29740860;32515017;30146301 False 3 67;33;0 6.185 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN4A gene SCN4A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Classic congenital myopathy-22A, OMIM:620351;congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369;congenital myopathy 22B, severe fetal, MONDO:0957265 False 3 100;0;0 6.185 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN5A gene SCN5A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Sudden infant death syndrome, susceptibility to}, OMIM:272120;Long QT syndrome 3, OMIM:603830 19419784;22064211;15184283 False 3 100;0;0 6.185 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCNM1 gene SCNM1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX;OMIM:620107 False 3 100;0;0 6.185 False ENSG00000163156 ENSG00000163156 HGNC:23136 SCO2 gene SCO2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 18924171;15210538 False 3 100;0;0 6.185 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCUBE3 gene SCUBE3 Expert Review Green;NHS GMS;Other Fetal anomalies Fetal (including NIPD) 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 6.185 False ENSG00000146197 ENSG00000146197 HGNC:13655 SCYL2 gene SCYL2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766 39138116;39169672 False 3 100;0;0 6.185 False ENSG00000136021 ENSG00000136021 HGNC:19286 SDCCAG8 gene SDCCAG8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME 7 False 3 100;0;0 6.185 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDR9C7 gene SDR9C7 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 13, OMIM:617574 False 3 100;0;0 6.185 False ENSG00000170426 ENSG00000170426 HGNC:29958 SEC23B gene SEC23B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100 20381388 False 3 100;0;0 6.185 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEC24D gene SEC24D Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SYNDROMIC OSTEOGENESIS IMPERFECTA False 3 50;50;0 6.185 False ENSG00000150961 ENSG00000150961 HGNC:10706 SELENON gene SELENON Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, OMIM:602771;Congenital myopathy 3 with rigid spine;OMIM:602771 False 3 67;0;33 6.185 False ENSG00000162430 ENSG00000162430 HGNC:15999 SEMA3A gene SEMA3A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897;congenital heart disease;skeletal anomalies 20301509;22927827;24124006;33369061;21059704;28075028 False 3 100;0;0 6.185 False ENSG00000075213 ENSG00000075213 HGNC:10723 SENP7 gene SENP7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia 37460201;39763084 False 3 100;0;0 6.185 False ENSG00000138468 ENSG00000138468 HGNC:30402 SEPSECS gene SEPSECS DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D 29464431;26805434;26888482 False 3 100;0;0 6.185 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERPINF1 gene SERPINF1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, OMIM:613982;Osteogenesis imperfecta type 6, MONDO:0013515 False 3 100;0;0 6.185 False ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type X, OMIM:613848;Osteogenesis imperfecta type 10, MONDO:0013459 False 3 100;0;0 6.185 False ENSG00000149257 ENSG00000149257 HGNC:1546 SETBP1 gene SETBP1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY;SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME False 3 100;0;0 6.185 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 37000069 False 3 67;33;0 6.185 False ENSG00000099381 ENSG00000099381 HGNC:29010 SETD2 gene SETD2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;profound intellectual disability;congenital anomalies;dysmorphic facial features 32710489;33255631 False 3 67;33;0 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 False 3 100;0;0 6.185 False ENSG00000168137 ENSG00000168137 HGNC:25566 SF3B4 gene SF3B4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROFACIAL DYSOSTOSIS 1, NAGER TYPE False 3 100;0;0 6.185 False ENSG00000143368 ENSG00000143368 HGNC:10771 SGPL1 gene SGPL1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal hydrops;Nephrotic syndrome type 14, 617575 False 3 100;0;0 6.185 False ENSG00000166224 ENSG00000166224 HGNC:10817 SH3PXD2B gene SH3PXD2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRANK-TER HAAR SYNDROME False 3 100;0;0 6.185 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHANK3 gene SHANK3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phelan-McDermid syndrome, OMIM:606232;Phelan-McDermid syndrome, MONDO:0011652 False 3 50;50;0 6.185 False ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY TYPE 3;TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME;MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5;SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR False 3 100;0;0 6.185 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHMT2 gene SHMT2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polymicrogyria;corpus callosum anomalies;Microcephaly;Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 33015733 False 3 100;0;0 6.185 False ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR False 3 100;0;0 6.185 False ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582 False 3 100;0;0 6.185 False ENSG00000185960 ENSG00000185960 HGNC:10853 SHROOM4 gene SHROOM4 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Abnormal corpus callosum;congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems 36379543;32565546;40905141 False 3 50;25;25 6.185 False ENSG00000158352 ENSG00000158352 HGNC:29215 SIK3 gene SIK3 Expert Review Green;Other Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162;spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571 30232230;22318228 False 3 0;0;0 6.185 False ENSG00000160584 ENSG00000160584 HGNC:29165 SIL1 gene SIL1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 100;0;0 6.185 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIN3A gene SIN3A Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Witteveen-Kolk syndrome, OMIM:613406 27399968 False 3 67;33;0 6.185 False ENSG00000169375 ENSG00000169375 HGNC:19353 SIX2 gene SIX2 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted six2-related frontonasal dysplasia, MONDO:0044628 27383657;32506814;29315086;26581443 False 3 100;0;0 6.185 False ENSG00000170577 ENSG00000170577 HGNC:10888 SIX3 gene SIX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY False 3 100;0;0 6.185 False ENSG00000138083 ENSG00000138083 HGNC:10889 SIX6 gene SIX6 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550;Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927 False 3 100;0;0 6.185 False ENSG00000184302 ENSG00000184302 HGNC:10892 SKI gene SKI Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME False 3 100;0;0 6.185 False ENSG00000157933 ENSG00000157933 HGNC:10896 SKIV2L gene SKIV2L Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, OMIM:614602 22444670;27431780 False 3 67;0;33 6.185 False ENSG00000204351 ENSG00000204351 HGNC:10898 SKOR2 gene SKOR2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia, neurodevelopmental delay False 3 100;0;0 6.185 False ENSG00000215474 ENSG00000215474 HGNC:32695 SLC10A7 gene SLC10A7 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with multiple dislocations and amelogenesis imperfecta 30082715;29878199 False 3 100;0;0 6.185 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC12A1 gene SLC12A1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344 8640224;9355073;28095294;32506365 False 3 100;0;0 6.185 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A6 gene SLC12A6 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068;Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 12368912;31439721;27485015;16606917;17893295;21628467 False 3 100;0;0 6.185 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A9 gene SLC12A9 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects 38334070 False 3 100;0;0 6.185 False ENSG00000146828 ENSG00000146828 HGNC:17435 SLC13A5 gene SLC13A5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE False 3 100;0;0 6.185 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY False 3 100;0;0 6.185 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SALLA DISEASE;INFANTILE SIALIC ACID STORAGE DISORDER False 3 100;0;0 6.185 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A3 gene SLC18A3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239;Congenital myasthenic syndrome 21, MONDO:0014983 31059209 False 3 100;0;0 6.185 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC20A1 gene SLC20A1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC) 32850778;27013921 False 3 100;0;0 6.185 False ENSG00000144136 ENSG00000144136 HGNC:10946 SLC25A19 gene SLC25A19 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, OMIM:607196;Amish lethal microcephaly, MONDO:0011790 False 3 50;50;0 6.185 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY False 3 100;0;0 6.185 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A24 gene SLC25A24 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fontaine progeroid syndrome, OMIM;612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094 False 3 100;0;0 6.185 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A38 gene SLC25A38 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE False 3 100;0;0 6.185 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 27693233;30013777 False 3 67;33;0 6.185 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A46 gene SLC25A46 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1E, OMIM:619303 28653766;35012485;27543974;26951855 False 3 100;0;0 6.185 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC26A2 gene SLC26A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4;ACHONDROGENESIS TYPE 1B;ATELOSTEOGENESIS TYPE 2;DIASTROPHIC DYSPLASIA False 3 100;0;0 6.185 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Chloride diarrhea, congenital, Finnish type 214700 False 3 100;0;0 6.185 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC27A4 gene SLC27A4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS PREMATURITY SYNDROME False 3 100;0;0 6.185 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLC29A3 gene SLC29A3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;H syndrome, MONDO:0011273 False 3 100;0;0 6.185 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A10 gene SLC2A10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARTERIAL TORTUOSITY SYNDROME False 3 100;0;0 6.185 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC33A1 gene SLC33A1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN False 3 100;0;0 6.185 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC34A1 gene SLC34A1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Infantile hypercalcemia-2, OMIM:616963 9560283;12324554;25050900 False 3 100;0;0 6.185 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC35A2 gene SLC35A2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 False 3 100;0;0 6.185 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35A3 gene SLC35A3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 28328131;28777481;24031089;33416188 False 3 100;0;0 6.185 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35C1 gene SLC35C1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C False 3 100;0;0 6.185 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SCHNECKENBECKEN DYSPLASIA False 3 100;0;0 6.185 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A8 gene SLC39A8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual Disability with Cerebellar Atrophy False 3 100;0;0 6.185 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC4A10 gene SLC4A10 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 38054405;37459438;31130284 False 3 100;0;0 6.185 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC5A6 gene SLC5A6 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sodium-dependent multivitamin transporter deficiency, OMIM:618973 False 3 100;0;0 6.185 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC5A7 gene SLC5A7 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143;Congenital myasthenic syndrome 20, MONDO:0014939 27569547;31299140 False 3 50;50;0 6.185 False ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A9 gene SLC6A9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine, OMIM:617301;Arthrogryposis, MONDO:0008779 27773429;31875334;32712301;33269555 False 3 50;50;0 6.185 False ENSG00000196517 ENSG00000196517 HGNC:11056 SLF2 gene SLF2 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, OMIM:620184 False 3 100;0;0 6.185 False ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA COMPLEMENTATION GROUP P 21240277;21240275 False 3 100;0;0 6.185 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD2 gene SMAD2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 6, OMIM:619656;Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657 30157302;29967133;23665959 False 3 100;0;0 6.185 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMAD3-RELATED LOEYS-DIETZ SYNDROME False 3 100;0;0 6.185 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYHRE SYNDROME;JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JUVENILE POLYPOSIS SYNDROME False 3 100;0;0 6.185 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NICOLAIDES-BARAITSER SYNDROME;COFFIN SIRIS False 3 100;0;0 6.185 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RHABDOID TUMOR PREDISPOSITION SYNDROME 2;COFFIN SIRIS False 3 100;0;0 6.185 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RHABDOID PREDISPOSITION SYNDROME 1;?COFFIN-SIRIS SYNDROME False 3 100;0;0 6.185 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC1 gene SMARCC1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus;Aqueductal stenosis;Septal agenesis;Corpus callosum abnormalities;{Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241 24170322;29983323;32732226;33077954 False 3 100;0;0 6.185 False ENSG00000173473 ENSG00000173473 HGNC:11104 SMARCC2 gene SMARCC2 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 8, OMIM:618362 False 3 100;0;0 6.185 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMARCD1 gene SMARCD1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 11, OMIM:618779 30879640 False 3 100;0;0 6.185 False ENSG00000066117 ENSG00000066117 HGNC:11106 SMARCE1 gene SMARCE1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5, OMIM:616938 32732226;32436246;32410215 False 3 50;50;0 6.185 False ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 False 3 100;0;0 6.185 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME TYPE 3 False 3 100;0;0 6.185 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMC5 gene SMC5 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, OMIM:620185 False 3 100;0;0 6.185 False ENSG00000198887 ENSG00000198887 HGNC:20465 SMCHD1 gene SMCHD1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Isolated Arhinia/Bosma Arhinia syndrome False 3 100;0;0 6.185 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMG8 gene SMG8 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Alzahrani-Kuwahara syndrome, OMIM:619268 False 3 100;0;0 6.185 False ENSG00000167447 ENSG00000167447 HGNC:25551 SMG9 gene SMG9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SMG9 Multiple Congenital Anomaly Syndrome;Heart and brain malformation syndrome, 616920 27018474;31390136 False 3 50;50;0 6.185 False ENSG00000105771 ENSG00000105771 HGNC:25763 SMN1 gene SMN1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy 253550;Spinal muscular atrophy 271150;Spinal muscular atrophy 253400;Spinal muscular atrophy 253300 11826188;32644125;32644120 False 3 100;0;0 6.185 False ENSG00000172062 ENSG00000172062 HGNC:11117 SMO gene SMO Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Curry-Jones Syndrome False 3 100;0;0 6.185 False ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OPHTHALMOACROMELIC SYNDROME False 3 100;0;0 6.185 False ENSG00000198732 ENSG00000198732 HGNC:20318 SMPD4 gene SMPD4 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622;Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838 31495489 False 3 100;0;0 6.185 False ENSG00000136699 ENSG00000136699 HGNC:32949 SMS gene SMS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 3 50;50;0 6.185 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myasthenic syndrome, congenital, 18, OMIM:616330 33299146;36379720 False 3 67;33;0 6.185 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNAPIN gene SNAPIN Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder;Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 40930097 False 3 100;0;0 6.185 False ENSG00000143553 ENSG00000143553 HGNC:17145 SNF8 gene SNF8 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder plus optic atrophy, OMIM:620784;Developmental and epileptic encephalopathy 115, OMIM:620783 38423010 False 3 100;0;0 6.185 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNORD118 gene SNORD118 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with cerebral calcification & cysts False 3 100;0;0 6.185 False ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPB gene SNRPB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRO-COSTO-MANDIBULAR SYNDROME False 3 100;0;0 6.185 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNX10 gene SNX10 Expert list;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8, OMIM:615085;Autosomal recessive osteopetrosis 8, MONDO:0014040 False 3 100;0;0 6.185 False ENSG00000086300 ENSG00000086300 HGNC:14974 SNX14 gene SNX14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA False 3 100;0;0 6.185 False ENSG00000135317 ENSG00000135317 HGNC:14977 SON gene SON Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Congenital Malformations, and Failure to Thrive False 3 100;0;0 6.185 False ENSG00000159140 ENSG00000159140 HGNC:11183 SOS1 gene SOS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 4 False 3 100;0;0 6.185 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fetal hydrops;Noonan syndrome 9, 616559 False 3 100;0;0 6.185 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOST gene SOST Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal SOST-Related Sclerosing Bone Dysplasias 122860;Sclerosteosis 1, 269500;Craniodiaphyseal dysplasia, autosomal dominant, 122860 False 3 100;0;0 6.185 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX10 gene SOX10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE;KALLMANN SYNDROME WITH DEAFNESS;YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME;WAARDENBURG SYNDROME TYPE 4C;WAARDENBURG SYNDROME TYPE 2E False 3 100;0;0 6.185 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 33785884;24886874;31530938;33086258;33430815 False 3 67;33;0 6.185 False ENSG00000176887 ENSG00000176887 HGNC:11191 SOX17 gene SOX17 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VESICOURETERAL REFLUX TYPE 3 False 3 100;0;0 6.185 False ENSG00000164736 ENSG00000164736 HGNC:18122 SOX18 gene SOX18 Expert list;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073;Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823;Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914 False 3 100;0;0 6.185 False ENSG00000203883 ENSG00000203883 HGNC:11194 SOX2 gene SOX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AEG SYNDROME;MICROPHTHALMIA SYNDROMIC TYPE 3 False 3 100;0;0 6.185 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 False 3 100;0;0 6.185 False ENSG00000134595 ENSG00000134595 HGNC:11199 SOX4 gene SOX4 Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506 False 3 100;0;0 6.185 False ENSG00000124766 ENSG00000124766 HGNC:11200 SOX6 gene SOX6 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tolchin-Le Caignec syndrome, OMIM:618971;Tolchin-Le Caignec syndrome, MONDO:0033544 False 3 100;0;0 6.185 False ENSG00000110693 ENSG00000110693 HGNC:16421 SOX9 gene SOX9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PIERRE ROBIN SEQUENCE;CAMPOMELIC DYSPLASIA 28425981;30712880 False 3 100;0;0 6.185 False ENSG00000125398 ENSG00000125398 HGNC:11204 SP7 gene SP7 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII, OMIM:613849;Osteogenesis imperfecta type 12, MONDO:0013460 False 3 100;0;0 6.185 False ENSG00000170374 ENSG00000170374 HGNC:17321 SPAG1 gene SPAG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. False 3 100;0;0 6.185 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPARC gene SPARC Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, OMIM:616507;Osteogenesis imperfecta type 17, MONDO:0014672 False 3 50;50;0 6.185 False ENSG00000113140 ENSG00000113140 HGNC:11219 SPATA5 gene SPATA5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 False 3 100;0;0 6.185 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPECC1L gene SPECC1L Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Facial clefting, oblique, 1, OMIM:600251;Tessier number 4 facial cleft, MONDO:0010850;Hypertelorism, Teebi type, OMIM:145420;Hypertelorism, Teebi type, MONDO:0007780;Opitz GBBB syndrome, type II, OMIM:145410;Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779 False 3 50;50;0 6.185 False ENSG00000100014 ENSG00000100014 HGNC:29022 SPEG gene SPEG Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY False 3 100;0;0 6.185 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPEN gene SPEN Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radio-Tartaglia syndrome, OMIM:619312 33596411 False 3 100;0;0 6.185 False ENSG00000065526 ENSG00000065526 HGNC:17575 SPG11 gene SPG11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPASTIC PARAPLEGIA-11 False 3 100;0;0 6.185 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPINT2 gene SPINT2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420;congenital secretory sodium diarrhea 3, MONDO:0010036 19185281;24142340;30445423;20009592;33374714;33029133;33547739 False 3 100;0;0 6.185 False ENSG00000167642 ENSG00000167642 HGNC:11247 SPOUT1 gene SPOUT1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 39962046 False 3 100;0;0 6.185 False ENSG00000198917 ENSG00000198917 HGNC:26933 SPRED1 gene SPRED1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEGIUS SYNDROME False 3 100;0;0 6.185 False ENSG00000166068 ENSG00000166068 HGNC:20249 SPTA1 gene SPTA1 Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hereditary pyropoikilocytosis;Spherocytosis, type 3, OMIM:270970;Congenital anaemia;Elliptocytosis-2, OMIM:130600;Hydrops fetalis 34132406;30198572;38031483;33082562;31333484 False 3 60;20;20 6.185 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-3, OMIM:617948;Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948;Spherocytosis, type 2, OMIM:616649 33761640;33082562;35819869 False 3 100;0;0 6.185 False ENSG00000070182 ENSG00000070182 HGNC:11274 SRCAP gene SRCAP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FLOATING-HARBOR SYNDROME False 3 100;0;0 6.185 False ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A2 gene SRD5A2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudovaginal perineoscrotal hypospadias 264600 False 3 100;0;0 6.185 False ENSG00000049319 ENSG00000277893 HGNC:11285 SRD5A3 gene SRD5A3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION False 3 100;0;0 6.185 False ENSG00000128039 ENSG00000128039 HGNC:25812 SRPK3 gene SRPK3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 114, OMIM:301134 39073169 False 3 100;0;0 6.185 False ENSG00000184343 ENSG00000184343 HGNC:11402 SRY gene SRY Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY SEX REVERSAL 1 False 3 100;0;0 6.185 False ENSG00000184895 ENSG00000184895 HGNC:11311 ST14 gene ST14 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 11, OMIM:602400;Autosomal recessive congenital ichthyosis 11, MONDO:0011218 False 3 50;50;0 6.185 False ENSG00000149418 ENSG00000149418 HGNC:11344 STAC3 gene STAC3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, OMIM:255995;Bailey-Bloch congenital myopathy, MONDO:0009722 30168660 False 3 100;0;0 6.185 False ENSG00000185482 ENSG00000185482 HGNC:28423 STAG2 gene STAG2 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAG2-related developmental delay with microcephaly and congenital anomalies 30158690;29263825;28296084 False 3 100;0;0 6.185 False ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 False 3 100;0;0 6.185 False ENSG00000124356 ENSG00000124356 HGNC:16950 STAR gene STAR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA False 3 100;0;0 6.185 False ENSG00000147465 ENSG00000147465 HGNC:11359 STIL gene STIL Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, autosomal recessive, OMIM:612703;Microcephaly 7, primary, autosomal recessive, MONDO:0012989 29230157 False 3 50;50;0 6.185 False ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA SYNDROMIC TYPE 9 False 3 100;0;0 6.185 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087;Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 False 3 100;0;0 6.185 False ENSG00000266173 ENSG00000266173 HGNC:30172 STT3A gene STT3A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 28424003;30701557;34653363;23842455 False 3 100;0;0 6.185 False ENSG00000134910 ENSG00000134910 HGNC:6172 STX5 gene STX5 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIaa, OMIM:620454 34711829 False 3 75;25;0 6.185 False ENSG00000162236 ENSG00000162236 HGNC:11440 SUCLG1 gene SUCLG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FATAL INFANTILE LACTIC ACIDOSIS 21093335 False 3 100;0;0 6.185 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Joubert syndrome 32, OMIM: 617757;Joubert Syndrome with Cranio-facial and Skeletal Defects" 21289193;28965847;33024317 False 3 50;50;0 6.185 True ENSG00000107882 ENSG00000107882 HGNC:16466 SULT2B1 gene SULT2B1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 14, OMIM:617571;Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091 28575648 False 3 100;0;0 6.185 False ENSG00000088002 ENSG00000088002 HGNC:11459 SUMF1 gene SUMF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SULFATIDOSIS, JUVENILE, AUSTIN TYPE False 3 100;0;0 6.185 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUZ12 gene SUZ12 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver-like overgrowth syndrome;Imagawa-Matsumoto syndrome #618786 30019515;28229514 False 3 100;0;0 6.185 False ENSG00000178691 ENSG00000178691 HGNC:17101 SYNE1 gene SYNE1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484;Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 19542096;24319099;27782104 False 3 50;0;50 6.185 False ENSG00000131018 ENSG00000131018 HGNC:17089 TAB2 gene TAB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 False 3 100;0;0 6.185 False ENSG00000055208 ENSG00000055208 HGNC:17075 TAF1 gene TAF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Dysmorphic Features, Intellectual Disability, and Neurological Manifestations False 3 100;0;0 6.185 False ENSG00000147133 ENSG00000147133 HGNC:11535 TAF8 gene TAF8 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 39169228 False 3 100;0;0 6.185 False ENSG00000137413 ENSG00000137413 HGNC:17300 TALDO1 gene TALDO1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal hydrops;Transaldolase deficiency, 606003 False 3 100;0;0 6.185 False ENSG00000177156 ENSG00000177156 HGNC:11559 TAPT1 gene TAPT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMPLEX LETHAL OSTEOCHONDRODYSPLASIA False 3 100;0;0 6.185 False ENSG00000169762 ENSG00000169762 HGNC:26887 TASP1 gene TASP1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Suleiman-El-Hattab syndrome, OMIM:618950 False 3 100;0;0 6.185 False ENSG00000089123 ENSG00000089123 HGNC:15859 TAZ gene TAZ Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females BARTH SYNDROME False 3 100;0;0 6.185 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D20 gene TBC1D20 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4 615663;Warburg micro syndrome 4 24239381 False 3 100;0;0 6.185 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D23 gene TBC1D23 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Non-degenerative Pontocerebellar Hypoplasia False 3 100;0;0 6.185 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL;DOORS SYNDROME;NON SYNDROMAL HEARING LOSS False 3 100;0;0 6.185 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D32 gene TBC1D32 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 3 100;0;0 6.185 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBCD gene TBCD Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 False 3 100;0;0 6.185 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy;HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME;KENNY-CAFFEY SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe Infantile Syndromic Encephalopathy False 3 100;0;0 6.185 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability with autism spectrum disorder;Pierpont syndrome 28687524;30365874;26769062;25425123;23160955;9450851;16007632;23176139 False 3 100;0;0 6.185 False ENSG00000177565 ENSG00000177565 HGNC:29529 TBR1 gene TBR1 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, OMIM:606053 32005960 False 3 67;33;0 6.185 False ENSG00000136535 ENSG00000136535 HGNC:11590 TBX1 gene TBX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 22Q11.2 DELETION SYNDROME False 3 100;0;0 6.185 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX15 gene TBX15 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature;Cousin Syndrome False 3 100;0;0 6.185 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX18 gene TBX18 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 False 3 100;0;0 6.185 False ENSG00000112837 ENSG00000112837 HGNC:11595 TBX20 gene TBX20 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 4 False 3 100;0;0 6.185 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX3 gene TBX3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ULNAR-MAMMARY SYNDROME False 3 100;0;0 6.185 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 False 3 100;0;0 6.185 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLT-ORAM SYNDROME False 3 100;0;0 6.185 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondylocostal dysostosis 5 122600 False 3 100;0;0 6.185 False ENSG00000149922 ENSG00000149922 HGNC:11605 TCF12 gene TCF12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORONAL CRANIOSYNOSTOSIS False 3 100;0;0 6.185 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCF4 gene TCF4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PITT-HOPKINS SYNDROME False 3 100;0;0 6.185 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCIRG1 gene TCIRG1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, infantile malignant 259700 False 3 100;0;0 6.185 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCOF1 gene TCOF1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TREACHER COLLINS SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCP1 gene TCP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 39480921 False 3 100;0;0 6.185 False ENSG00000120438 ENSG00000120438 HGNC:11655 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565;Jeune asphyxiating thoracic dystrophy;JATD 25830415;26044572;28475963 False 3 100;0;0 6.185 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13 614173;JOUBERT SYNDROME AND RELATED DISORDERS False 3 100;0;0 6.185 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME AND RELATED DISORDERS 30712880 False 3 100;0;0 6.185 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MOHR-MAJEWSKI SYNDROME False 3 100;0;0 6.185 False ENSG00000119977 ENSG00000119977 HGNC:24519 TELO2 gene TELO2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome, OMIM:616954;TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 False 3 50;50;0 6.185 False ENSG00000100726 ENSG00000100726 HGNC:29099 TENM3 gene TENM3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, OMIM:615145;?Microphthalmia, isolated, with coloboma 9, OMIM:615145;Microphthalmia, isolated, with coloboma 9, MONDO:0014059 22766609;27103084;30513139;29753094 False 3 100;0;0 6.185 False ENSG00000218336 ENSG00000218336 HGNC:29944 TFAP2A gene TFAP2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOCULOFACIAL SYNDROME False 3 100;0;0 6.185 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHAR SYNDROME False 3 100;0;0 6.185 False ENSG00000008196 ENSG00000008196 HGNC:11743 TGDS gene TGDS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CATEL-MANZKE SYNDROME False 3 100;0;0 6.185 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB2 gene TGFB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME, TYPE 4 False 3 100;0;0 6.185 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME False 3 100;0;0 6.185 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME TYPE 2A;LOEYS-DIETZ SYNDROME TYPE 1A;AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 False 3 100;0;0 6.185 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME;TGFBR2-RELATED LOEYS-DIETZ SYNDROME False 3 100;0;0 6.185 False ENSG00000163513 ENSG00000163513 HGNC:11773 TGIF1 gene TGIF1 Expert Review Green;PAGE Additional Gene List;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4 142946;HOLOPROSENCEPHALY False 3 100;0;0 6.185 False ENSG00000177426 ENSG00000177426 HGNC:11776 TGM1 gene TGM1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 242300 False 3 100;0;0 6.185 False ENSG00000092295 ENSG00000092295 HGNC:11777 THOC2 gene THOC2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 12, OMIM:300957 32116545;26166480;32960281;29851191 False 3 50;50;0 6.185 False ENSG00000125676 ENSG00000125676 HGNC:19073 THOC6 gene THOC6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Beaulieu-Boycott-Innes syndrome False 3 100;0;0 6.185 False ENSG00000131652 ENSG00000131652 HGNC:28369 THRA gene THRA Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 False 3 100;0;0 6.185 False ENSG00000126351 ENSG00000126351 HGNC:11796 THSD1 gene THSD1 Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 13, OMIM:620244 26036949;30055085;33569873;27895300;28749478;37993095 False 3 67;33;0 6.185 False ENSG00000136114 ENSG00000136114 HGNC:17754 THUMPD1 gene THUMPD1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 False 3 100;0;0 6.185 False ENSG00000066654 ENSG00000066654 HGNC:23807 TINF2 gene TINF2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE False 3 100;0;0 6.185 False ENSG00000092330 ENSG00000092330 HGNC:11824 TK2 gene TK2 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 False 3 50;25;25 6.185 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMCO1 gene TMCO1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME False 3 100;0;0 6.185 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM107 gene TMEM107 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 29, OMIM:617562;Meckel syndrome 13, OMIM:617562;Meckel syndrome 13, MONDO:0033044;Orofaciodigital syndrome XVI, OMIM:617563;Orofaciodigital syndrome 16, MONDO:0033045 26123494;26518474;26595381;23523602 False 3 100;0;0 6.185 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16 614465 False 3 100;0;0 6.185 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK False 3 100;0;0 6.185 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM167A gene TMEM167A Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328 40924476 False 3 100;0;0 6.185 False ENSG00000174695 ENSG00000174695 HGNC:28330 TMEM17 gene TMEM17 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308 40841990 False 3 100;0;0 6.185 False ENSG00000186889 ENSG00000186889 HGNC:26623 TMEM216 gene TMEM216 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2, OMIM:603194;Meckel syndrome, type 2, MONDO:0011296 20036350;20512146 False 3 50;50;0 6.185 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682 False 3 100;0;0 6.185 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20 614970;Meckel syndrome 11 615397 False 3 100;0;0 6.185 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 14 False 3 100;0;0 6.185 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM251 gene TMEM251 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dysostosis multiplex, Ain-Naz type, OMIM:619345 False 3 100;0;0 6.185 False ENSG00000153485 ENSG00000153485 HGNC:20218 TMEM260 gene TMEM260 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, OMIM:617478;Structural heart defects and renal anomalies syndrome, MONDO:0044321 28318500;34612517 False 3 60;40;0 6.185 False ENSG00000070269 ENSG00000070269 HGNC:20185 TMEM38B gene TMEM38B Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV, OMIM:615066;Osteogenesis imperfecta type 14, MONDO:0014029 23054245;23316006 False 3 100;0;0 6.185 False ENSG00000095209 ENSG00000095209 HGNC:25535 TMEM5 gene TMEM5 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SEVERE COBBLESTONE LISSENCEPHALY False 3 100;0;0 6.185 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME TYPE 6;MECKEL SYNDROME TYPE 3;COACH SYNDROM;NEPHRONOPHTHISIS TYPE 11 False 3 100;0;0 6.185 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal IUGR;Oligohydramnios;Anhydramnios;Cardiomyopathy 18953340;20335238;21147908;24740313;25326274;26550569 False 3 67;0;33 6.185 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM94 gene TMEM94 Expert Review;Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 PMID: 30526868 False 3 100;0;0 6.185 False ENSG00000177728 ENSG00000177728 HGNC:28983 TMEM98 gene TMEM98 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nanophthalmos 4, OMIM:615972;Nanophthalmos 4, MONDO:0014426 24852644;26392740 False 3 100;0;0 6.185 False ENSG00000006042 ENSG00000006042 HGNC:24529 TMTC3 gene TMTC3 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8, OMIM:617255 27773428;28973161 False 3 67;33;0 6.185 False ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730;Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 31586943;31735293;31270415 False 3 100;0;0 6.185 False ENSG00000213593 ENSG00000213593 HGNC:30739 TNNI2 gene TNNI2 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis multiplex congenita, distal, type 2B 601680 False 3 100;0;0 6.185 False ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy, Amish type 605355 False 3 100;0;0 6.185 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B2, OMIM:618435;Arthrogryposis, distal, type 2B2, MONDO:0032750 32779773;17194691;19142688;21402185;25337069 False 3 100;0;0 6.185 False 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;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, OMIM:614969;Pontocerebellar hypoplasia type 7, MONDO:0013993 False 3 50;50;0 6.185 False ENSG00000132773 ENSG00000132773 HGNC:15954 TOGARAM1 gene TOGARAM1 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, OMIM:619185 32453716;32747439 False 3 100;0;0 6.185 False ENSG00000198718 ENSG00000198718 HGNC:19959 TONSL gene TONSL Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 32959051;30773278;30773277 False 3 100;0;0 6.185 False ENSG00000160949 ENSG00000160949 HGNC:7801 TOP3A gene TOP3A DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome like Disorder 30193137 False 3 100;0;0 6.185 False ENSG00000177302 ENSG00000177302 HGNC:11992 TOR1A gene TOR1A Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 5, OMIM:618947;Arthrogryposis multiplex congenita 5, MONDO:0100218 30244176;29053766;28516161 False 3 100;0;0 6.185 False ENSG00000136827 ENSG00000136827 HGNC:3098 TOR1AIP1 gene TOR1AIP1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072;congenital myasthenic syndrome 27342937;24856141;30723199;32055997;33215087;31299614 False 3 100;0;0 6.185 False ENSG00000143337 ENSG00000143337 HGNC:29456 TP53RK gene TP53RK Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, OMIM:617730 False 3 100;0;0 6.185 False ENSG00000172315 ENSG00000172315 HGNC:16197 TP63 gene TP63 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 3 100;0;0 6.185 False ENSG00000073282 ENSG00000073282 HGNC:15979 TP73 gene TP73 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 34077761;31130284 False 3 100;0;0 6.185 False ENSG00000078900 ENSG00000078900 HGNC:12003 TPM2 gene TPM2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARTHROGRYPOSIS, DISTAL, TYPE 1;Arthrogryposis multiplex congenita, distal, type 1, 108120;Arthrogryposis, distal, type 2B, 601680 12592607;17339586 False 3 100;0;0 6.185 False Other ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital fiber-type disproportion myopathy 255310 False 3 100;0;0 6.185 False ENSG00000143549 ENSG00000143549 HGNC:12012 TPRKB gene TPRKB Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM:617731 False 3 100;0;0 6.185 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 False 3 100;0;0 6.185 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAF7 gene TRAF7 DD-Gene2Phenotype;Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental Delay, Congenital Anomalies, and Dysmorphic Features;Cardiac, facial, and digital anomalies with developmental delay, 618164 29961569 False 3 100;0;0 6.185 False Other - please provide details in the comments ENSG00000131653 ENSG00000131653 HGNC:20456 TRAIP gene TRAIP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, OMIM:616777 26595769 False 3 50;50;0 6.185 False ENSG00000183763 ENSG00000183763 HGNC:30764 TRAP1 gene TRAP1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL 24152966 False 3 100;0;0 6.185 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC12 gene TRAPPC12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 32347653;28777934 False 3 67;33;0 6.185 False ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC9 gene TRAPPC9 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 False 3 100;0;0 6.185 False ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE False 3 100;0;0 6.185 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULIBREY NANISM False 3 100;0;0 6.185 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM71 gene TRIM71 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus, congenital communicating, 1, OMIM:618667 32168371;29983323;30975633 False 3 100;0;0 6.185 False ENSG00000206557 ENSG00000206557 HGNC:32669 TRIO gene TRIO Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061;Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 32109419;26721934 False 3 50;50;0 6.185 False ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP11 gene TRIP11 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACHONDROGENESIS TYPE 1A False 3 100;0;0 6.185 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP12 gene TRIP12 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRIP12-related intellectual disability with/without autism spectrum disorder False 3 100;0;0 6.185 False ENSG00000153827 ENSG00000153827 HGNC:12306 TRIP4 gene TRIP4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806;?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066;Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 26924529;27008887 False 3 100;0;0 6.185 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRIT1 gene TRIT1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 36049610;32088416 False 3 67;33;0 6.185 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10A gene TRMT10A Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1 False 3 100;0;0 6.185 False ENSG00000145331 ENSG00000145331 HGNC:28403 TRPS1 gene TRPS1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown METATROPIC DYSPLASIA;SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE False 3 100;0;0 6.185 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Transient Neonatal Hyperparathyroidism;Hyperparathyroidism, transient neonatal, 618188 29861107 False 3 0;100;0 6.185 False ENSG00000165125 ENSG00000165125 HGNC:14006 TRRAP gene TRRAP Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without dysmorphic facies and autism, OMIM:618454;multiple congenital anomalies 30827496 False 3 100;0;0 6.185 False ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBEROUS SCLEROSIS TYPE 1 False 3 100;0;0 6.185 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LYMPHANGIOLEIOMYOMATOSIS;TUBEROUS SCLEROSIS TYPE 2 False 3 100;0;0 6.185 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN15 gene TSEN15 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 30914295;25558065;27392077 False 3 67;33;0 6.185 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 False 3 50;50;0 6.185 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 False 3 33;67;0 6.185 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 16470708;20956791;20952379 False 3 100;0;0 6.185 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 31267352 False 3 100;0;0 6.185 False ENSG00000123297 ENSG00000123297 HGNC:12367 TSHZ3 gene TSHZ3 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomaly of kidney and urinary tract 36553458;34919690;39420202 False 3 100;0;0 6.185 False ENSG00000121297 ENSG00000121297 HGNC:30700 TTC21B gene TTC21B Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 4 with or without polydactyly 613819 False 3 100;0;0 6.185 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC26 gene TTC26 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534 False 3 100;0;0 6.185 False ENSG00000105948 ENSG00000105948 HGNC:21882 TTC37 gene TTC37 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TRICHOHEPATOENTERIC SYNDROME False 3 100;0;0 6.185 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INTESTINAL ATRESIA, MULTIPLE False 3 100;0;0 6.185 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA TYPE 51;BARDET-BIEDL SYNDROME TYPE 8 False 3 100;0;0 6.185 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTN gene TTN Expert Review;Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal congenital titinopathy with arthrogryposis 29575618;28040389;29691892 False 3 100;0;0 6.185 False ENSG00000155657 ENSG00000155657 HGNC:12403 TUBA1A gene TUBA1A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY;LISSENCEPHALY TYPE 3 False 3 100;0;0 6.185 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6;Circumferential Skin Creases Kunze Type False 3 100;0;0 6.185 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 27770045;30016746;25326637;28840640;24702957 False 3 100;0;0 6.185 True Other ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 False 3 100;0;0 6.185 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1;CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 32573066 False 3 50;50;0 6.185 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM False 3 100;0;0 6.185 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412 27010057;23603762;24860126;29706637;31151415 False 3 50;50;0 6.185 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 31630790 False 3 67;33;0 6.185 False ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP4 gene TUBGCP4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. 25817018 False 3 50;50;0 6.185 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000128159 ENSG00000128159 HGNC:18127 TWIST1 gene TWIST1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SAETHRE-CHOTZEN SYNDROME;CRANIOSYNOSTOSIS, TYPE 1 False 3 100;0;0 6.185 False ENSG00000122691 ENSG00000122691 HGNC:12428 TWIST2 gene TWIST2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ablepharon-macrostomia syndrome, 200110;Barber-Say syndrome, 209885 26119818 False 3 100;0;0 6.185 False Other ENSG00000233608 ENSG00000233608 HGNC:20670 TXNDC15 gene TXNDC15 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 100;0;0 6.185 False ENSG00000113621 ENSG00000113621 HGNC:20652 TXNL4A gene TXNL4A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BURN MCKEOWN SYNDROME False 3 100;0;0 6.185 False ENSG00000141759 ENSG00000141759 HGNC:30551 U2AF2 gene U2AF2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, dysmorphic facies, and brain anomalies OMIM:620535 34112922;37134193;37092751;36747105 False 3 100;0;0 6.185 False ENSG00000063244 ENSG00000063244 HGNC:23156 UBA1 gene UBA1 Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile 301830 False 3 100;0;0 6.185 False ENSG00000130985 ENSG00000130985 HGNC:12469 UBA2 gene UBA2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACCES syndrome, OMIM:619959 31332306;31587267 False 3 100;0;0 6.185 False ENSG00000126261 ENSG00000126261 HGNC:30661 UBE2T gene UBE2T Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP T 26046368 False 3 50;50;0 6.185 False ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3B gene UBE3B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BLEPHAROPHIMOSIS-MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000151148 ENSG00000151148 HGNC:13478 UBR1 gene UBR1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JOHANSON-BLIZZARD SYNDROME False 3 100;0;0 6.185 False ENSG00000159459 ENSG00000159459 HGNC:16808 UBR7 gene UBR7 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Li-Campeau syndrome, OMIM:619189 33340455 False 3 100;0;0 6.185 False ENSG00000012963 ENSG00000012963 HGNC:20344 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia, Di Rocco type, OMIM:617974;?Hip dysplasia, Beukes type, OMIM:142669 28892125;32755715;33473208;26428751 False 3 100;0;0 6.185 False ENSG00000109775 ENSG00000109775 HGNC:25640 UGGT1 gene UGGT1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation False 3 100;0;0 6.185 False ENSG00000136731 ENSG00000136731 HGNC:15663 UMPS gene UMPS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OROTIC ACIDURIA TYPE 1 False 3 100;0;0 6.185 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13D gene UNC13D Expert Review;Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 21646258;33249554;29262924;33082562 False 3 60;40;0 6.185 False ENSG00000092929 ENSG00000092929 HGNC:23147 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 100;0;0 6.185 False ENSG00000169021 ENSG00000169021 HGNC:12587 UROS gene UROS Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL ERYTHROPOIETIC PORPHYRIA False 3 100;0;0 6.185 False ENSG00000188690 ENSG00000188690 HGNC:12592 USP14 gene USP14 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal syndromic disease, MONDO:0002254;distal arthrogryposis, MONDO:0019942 35066879;38469793 False 3 50;50;0 6.185 False ENSG00000101557 ENSG00000101557 HGNC:12612 USP18 gene USP18 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 3 0;100;0 6.185 False ENSG00000184979 ENSG00000184979 HGNC:12616 USP9X gene USP9X Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 99 False 3 50;50;0 6.185 False ENSG00000124486 ENSG00000124486 HGNC:12632 VAMP1 gene VAMP1 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25 28600779;28253535;28168212 False 3 100;0;0 6.185 False ENSG00000139190 ENSG00000139190 HGNC:12642 VEGFC gene VEGFC Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 4 False 3 100;0;0 6.185 False ENSG00000150630 ENSG00000150630 HGNC:12682 VIPAS39 gene VIPAS39 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome False 3 100;0;0 6.185 False ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 False 3 100;0;0 6.185 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13B gene VPS13B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COHEN SYNDROME 20683995 False 3 0;100;0 6.185 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33A gene VPS33A Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome, OMIM:617303 False 3 100;0;0 6.185 False ENSG00000139719 ENSG00000139719 HGNC:18179 VPS33B gene VPS33B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 False 3 100;0;0 6.185 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS4A gene VPS4A Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome, OMIM:619273 33186543;33186545 False 3 100;0;0 6.185 False ENSG00000132612 ENSG00000132612 HGNC:13488 VPS50 gene VPS50 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685 False 3 100;0;0 6.185 False ENSG00000004766 ENSG00000004766 HGNC:25956 VPS51 gene VPS51 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 13, OMIM:618606 False 3 100;0;0 6.185 False ENSG00000149823 ENSG00000149823 HGNC:1172 VPS53 gene VPS53 DD-Gene2Phenotype;Expert Review Green;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851;Progressive cerebella-cerebral atrophy type 2 24577744;12920088;30100179 False 3 100;0;0 6.185 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 1 False 3 50;50;0 6.185 False ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 2, OMIM:610093;Microphthalmia/coloboma 3, OMIM:610092 False 3 100;0;0 6.185 False ENSG00000119614 ENSG00000119614 HGNC:1975 WASHC5 gene WASHC5 Expert Review Green;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome 1, OMIM:220210 24065355 False 3 67;33;0 6.185 False ENSG00000164961 ENSG00000164961 HGNC:28984 WBP11 gene WBP11 Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 6.185 False ENSG00000084463 ENSG00000084463 HGNC:16461 WBP4 gene WBP4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852 37963460;37425688 False 3 100;0;0 6.185 False ENSG00000120688 ENSG00000120688 HGNC:12739 WDPCP gene WDPCP Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 15 False 3 100;0;0 6.185 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ASPHYXIATING THORACIC DYSTROPHY 5;CRANIOECTODERMAL DYSPLASIA 4 False 3 100;0;0 6.185 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR26 gene WDR26 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features False 3 100;0;0 6.185 False ENSG00000162923 ENSG00000162923 HGNC:21208 WDR34 gene WDR34 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHORT-RIB POLYDACTYLY SYNDROME TYPE III;SEVERE ASPHYXIATING THORACIC DYSPLASIA False 3 100;0;0 6.185 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA 2;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V False 3 100;0;0 6.185 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR37 gene WDR37 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome, OMIM:618652 31327508;31327510 False 3 100;0;0 6.185 False ENSG00000047056 ENSG00000047056 HGNC:31406 WDR4 gene WDR4 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346 28617965;26416026 False 3 100;0;0 6.185 False ENSG00000160193 ENSG00000160193 HGNC:12756 WDR44 gene WDR44 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related 38191484 False 3 100;0;0 6.185 False ENSG00000131725 ENSG00000131725 HGNC:30512 WDR47 gene WDR47 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39609633 False 3 100;0;0 6.185 False ENSG00000085433 ENSG00000085433 HGNC:29141 WDR60 gene WDR60 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal JEUNE SYNDROMES;SHORT-RIB POLYDACTYLY False 3 100;0;0 6.185 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR62 gene WDR62 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION False 3 100;0;0 6.185 False ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME;Galloway-Mowat syndrome 1, 251300 False 3 50;50;0 6.185 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967;Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794 28556411 False 3 100;0;0 6.185 False ENSG00000167716 ENSG00000167716 HGNC:26600 WDR91 gene WDR91 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hygroma;Hydrocephaly;microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment 32732226;34028500;28860274;40550703 False 3 67;33;0 6.185 False ENSG00000105875 ENSG00000105875 HGNC:24997 WLS gene WLS Expert Review Green;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, OMIM:619648 34587386 False 3 100;0;0 6.185 False ENSG00000116729 ENSG00000116729 HGNC:30238 WNK3 gene WNK3 Expert Review Green Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, OMIM:309610 False 3 100;0;0 6.185 False ENSG00000196632 ENSG00000196632 HGNC:14543 WNT1 gene WNT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, OMIM:615220 False 3 100;0;0 6.185 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, OMIM:225300 False 3 100;0;0 6.185 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT False 3 100;0;0 6.185 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FUHRMANN SYNDROME;LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME False 3 100;0;0 6.185 False ENSG00000154764 ENSG00000154764 HGNC:12786 WNT7B gene WNT7B Expert Review;Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pulmonary hypoplasia;Diaphragmatic anomalies;Anophthalmia/Microphthalmia;Cardiac defects 35790350 False 3 100;0;0 6.185 False ENSG00000188064 ENSG00000188064 HGNC:12787 WRAP53 gene WRAP53 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 False 3 100;0;0 6.185 False ENSG00000141499 ENSG00000141499 HGNC:25522 WSB2 gene WSB2 Expert Review Green;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly;neurodevelopmental disorder, MONDO:0700092 40374945 False 3 100;0;0 6.185 False ENSG00000176871 ENSG00000176871 HGNC:19222 WT1 gene WT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME;DENYS-DRASH SYNDROME False 3 100;0;0 6.185 False ENSG00000184937 ENSG00000184937 HGNC:12796 WWOX gene WWOX Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 28, OMIM:616211 33916893 False 3 67;33;0 6.185 False ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC4 gene XRCC4 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 False 3 100;0;0 6.185 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 3 100;0;0 6.185 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOOCULAR SYNDROME False 3 50;50;0 6.185 False ENSG00000015532 ENSG00000015532 HGNC:15517 YRDC gene YRDC Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 10, OMIM:619609 31481669;34545459 False 3 67;0;33 6.185 False ENSG00000196449 ENSG00000196449 HGNC:28905 YY1 gene YY1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 100;0;0 6.185 False ENSG00000100811 ENSG00000100811 HGNC:12856 YY1AP1 gene YY1AP1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Grange syndrome, OMIM:602531 False 3 100;0;0 6.185 False ENSG00000163374 ENSG00000163374 HGNC:30935 ZBTB18 gene ZBTB18 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB18 syndrome False 3 100;0;0 6.185 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRIMROSE SYNDROME False 3 100;0;0 6.185 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZBTB7A gene ZBTB7A Expert Review Green Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 False 3 100;0;0 6.185 False ENSG00000178951 ENSG00000178951 HGNC:18078 ZC4H2 gene ZC4H2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) 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 False 3 100;0;0 6.185 False ENSG00000126970 ENSG00000126970 HGNC:24931 ZEB1 gene ZEB1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anomalies of the corpus callosum 37857482 False 3 100;0;0 6.185 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZEB2 gene ZEB2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MOWAT-WILSON SYNDROME False 3 100;0;0 6.185 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFP57 gene ZFP57 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL False 3 100;0;0 6.185 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZFX gene ZFX Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) 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 37, OMIM:301118 38325380 False 3 100;0;0 6.185 False ENSG00000005889 ENSG00000005889 HGNC:12869 ZIC1 gene ZIC1 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRANIOSYNOSTOSIS 6 False 3 100;0;0 6.185 False ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY False 3 100;0;0 6.185 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;HETEROTAXY SYNDROME False 3 100;0;0 6.185 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMIZ1 gene ZMIZ1 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659 30639322;31879022 False 3 100;0;0 6.185 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMPSTE24 gene ZMPSTE24 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY;LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED False 3 100;0;0 6.185 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYM2 gene ZMYM2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 3 100;0;0 6.185 False ENSG00000121741 ENSG00000121741 HGNC:12989 ZMYND10 gene ZMYND10 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA-22 False 3 50;50;0 6.185 False ENSG00000004838 ENSG00000004838 HGNC:19412 ZNF335 gene ZNF335 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive, OMIM:615095 23178126;34982360;29652087;27540107 False 3 100;0;0 6.185 False ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF462 gene ZNF462 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weiss-Kruszka syndrome, OMIM:618619;Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay 28513610;31361404 False 3 67;33;0 6.185 False ENSG00000148143 ENSG00000148143 HGNC:21684 ZNF526 gene ZNF526 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 33397746;21937992;25558065 False 3 100;0;0 6.185 False ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF668 gene ZNF668 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 False 3 100;0;0 6.185 False ENSG00000167394 ENSG00000167394 HGNC:25821 ZNF699 gene ZNF699 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DEGCAGS syndrome, OMIM:619488 33875846 False 3 100;0;0 6.185 False ENSG00000196110 ENSG00000196110 HGNC:24750 ZPR1 gene ZPR1 Expert Review Green Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 False 3 100;0;0 6.185 False ENSG00000109917 ENSG00000109917 HGNC:13051 ZRSR2 gene ZRSR2 Expert Review Green;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, OMIM:301132 38158857 False 3 100;0;0 6.185 False ENSG00000169249 ENSG00000169249 HGNC:23019 ZSWIM6 gene ZSWIM6 Expert Review Green;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROMELIC FRONTONASAL DYSOSTOSIS False 3 50;50;0 6.185 False ENSG00000130449 ENSG00000130449 HGNC:29316 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert list Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 7825566 False 3 100;0;0 6.185 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 ISCA-46302-Gain region Expert Review Green;ClinGen Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females gonadal dysgenesis 22518125;17504899;20685758 False 3 0;100;0 6.185 False X 30176883 30336883 3 60 cnv_gain Xp21.2 region (includes NR0B1) Gain