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 ABCB11 gene ABCB11 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ABCB11-RELATED INTRAHEPATIC CHOLESTASIS False 1 0;0;100 6.185 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB7 gene ABCB7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ANEMIA, SIDEROBLASTIC, WITH ATAXIA False 1 0;0;100 6.185 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC8 gene ABCC8 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinemic hypoglycemia, familial 256450 False 1 0;0;100 6.185 False ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ADRENOLEUKODYSTROPHY, X-LINKED False 1 0;0;100 6.185 False ENSG00000101986 ENSG00000101986 HGNC:61 ACADM gene ACADM Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000122971 ENSG00000122971 HGNC:90 ACAT1 gene ACAT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALPHA-METHYLACETOACETIC ACIDURIA False 1 0;0;100 6.185 False ENSG00000075239 ENSG00000075239 HGNC:93 ACSL4 gene ACSL4 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 63 , OMIM:300387 12525535 False 1 0;50;50 6.185 False ENSG00000068366 ENSG00000068366 HGNC:3571 ACTN2 gene ACTN2 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 23, with or without LVNC;Cardiomyopathy, dilated, 1AA, with or without LVNC;Congenital myopathy 8 39521787 False 1 0;0;100 6.185 False ENSG00000077522 ENSG00000077522 HGNC:164 ACVR2B gene ACVR2B Expert Review;Expert Review Red;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gut malrotation;Heterotaxy, visceral, 4, autosomal;Dextrocardia;Double outlet right ventricle;Heterotaxy;asplenia;right-sided spleen;Transposition of the great arteries;polysplenia PMID: 9916847;PMID: 9242489 False 1 25;0;75 6.185 False ENSG00000114739 ENSG00000114739 HGNC:174 ADA gene ADA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700 False 1 0;0;100 6.185 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAMTS13 gene ADAMTS13 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 False 1 0;0;100 6.185 False ENSG00000160323 ENSG00000160323 HGNC:1366 AFF2 gene AFF2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females FRAGILE X-E MENTAL RETARDATION SYNDROME False 1 0;0;100 6.185 False ENSG00000155966 ENSG00000155966 HGNC:3776 AGA gene AGA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ASPARTYLGLUCOSAMINURIA False 1 0;0;100 6.185 False ENSG00000038002 ENSG00000038002 HGNC:318 AGPAT2 gene AGPAT2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lipodystrophy 608594 22902344 False 1 0;0;100 6.185 False ENSG00000169692 ENSG00000169692 HGNC:325 AGXT gene AGXT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPEROXALURIA, PRIMARY, TYPE 1 False 1 0;0;100 6.185 False ENSG00000172482 ENSG00000172482 HGNC:341 AIPL1 gene AIPL1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 4 False 1 0;0;100 6.185 False ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 False 1 0;0;100 6.185 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETICULAR DYSGENESIS False 1 0;0;100 6.185 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 False 1 0;0;100 6.185 False ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ACUTE HEPATIC PORPHYRIA False 1 0;0;100 6.185 False ENSG00000148218 ENSG00000148218 HGNC:395 ALB gene ALB Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Analbuminemia, OMIM:616000 31057599;15300429;23730173 False 1 0;0;100 6.185 False ENSG00000163631 ENSG00000163631 HGNC:399 ALDH4A1 gene ALDH4A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERPROLINEMIA TYPE 2 False 1 0;0;100 6.185 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDOB gene ALDOB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEREDITARY FRUCTOSE INTOLERANCE False 1 0;0;100 6.185 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG5 gene ALG5 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 7, OMIM:620056 35896117 False 1 0;0;100 6.185 False ENSG00000120697 ENSG00000120697 HGNC:20266 ALS2 gene ALS2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALS2-RELATED DISORDERS False 1 0;0;100 6.185 False ENSG00000003393 ENSG00000003393 HGNC:443 AMBRA1 gene AMBRA1 Expert Review Red;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neural tube defects 32333458;17589504 False 1 33;33;33 6.185 False ENSG00000110497 ENSG00000110497 HGNC:25990 ANO5 gene ANO5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal MIYOSHI MUSCULAR DYSTROPHY TYPE 3;GNATHODIAPHYSEAL DYSPLASIA False 1 0;0;100 6.185 False ENSG00000171714 ENSG00000171714 HGNC:27337 AP3B1 gene AP3B1 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2 608233 False 1 0;0;100 6.185 False ENSG00000132842 ENSG00000132842 HGNC:566 APOPT1 gene APOPT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY False 1 0;0;100 6.185 False ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATAXIA WITH OCULOMOTOR APRAXIA 1 False 1 0;0;100 6.185 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARAF gene ARAF Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic anomaly False 1 0;0;100 6.185 False ENSG00000078061 ENSG00000078061 HGNC:646 ARG1 gene ARG1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARGININEMIA False 1 0;0;100 6.185 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF17 gene ARHGEF17 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder False 1 0;0;100 6.185 False ENSG00000110237 ENSG00000110237 HGNC:21726 ARPC5 gene ARPC5 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 113 with autoimmunity and autoinflammation 37349293;37382373 False 1 0;0;100 6.185 False ENSG00000162704 ENSG00000162704 HGNC:708 ASL gene ASL Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ARGININOSUCCINATE LYASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000126522 ENSG00000126522 HGNC:746 ASPH gene ASPH Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Traboulsi syndrome, OMIM:601552 30194805;24768550;23687502;11241487;8749053;28976722 False 1 0;67;33 6.185 False ENSG00000198363 ENSG00000198363 HGNC:757 ATM gene ATM Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATAXIA-TELANGIECTASIA False 1 0;0;100 6.185 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PARKINSON DISEASE 9 False 1 0;0;100 6.185 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP6V1B1 gene ATP6V1B1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS False 1 0;0;100 6.185 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 2, OMIM:616455;Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480 28396750;24913193;25915598 False 1 0;50;50 6.185 False ENSG00000147416 ENSG00000147416 HGNC:854 ATP8B1 gene ATP8B1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS False 1 0;0;100 6.185 False ENSG00000081923 ENSG00000081923 HGNC:3706 AUH gene AUH Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-METHYLGLUTACONIC ACIDURIA TYPE 1 False 1 0;0;100 6.185 False ENSG00000148090 ENSG00000148090 HGNC:890 AUTS2 gene AUTS2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, OMIM:615834 23332918;25205402;31474318 False 1 0;0;100 6.185 False ENSG00000158321 ENSG00000158321 HGNC:14262 BCKDHA gene BCKDHA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASE False 1 0;0;100 6.185 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASE False 1 0;0;100 6.185 False ENSG00000083123 ENSG00000083123 HGNC:987 BORCS8 gene BORCS8 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 38128568 False 1 0;0;100 6.185 False ENSG00000254901 ENSG00000254901 HGNC:37247 BPTF gene BPTF Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 33522091;36153657 False 1 0;50;50 6.185 False ENSG00000171634 ENSG00000171634 HGNC:3581 BRD2 gene BRD2 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agenesis of corpus callosum 40186013 False 1 0;0;100 6.185 False ENSG00000204256 ENSG00000204256 HGNC:1103 BRWD3 gene BRWD3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 93, OMIM:300659;MENTAL RETARDATION X-LINKED TYPE 93 False 1 0;0;100 6.185 False ENSG00000165288 ENSG00000165288 HGNC:17342 C2orf71 gene C2orf71 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 54 False 1 0;0;100 6.185 False ENSG00000179270 ENSG00000179270 HGNC:34383 C4orf26 gene C4orf26 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA4, 614832 22901946 False 1 0;0;100 6.185 False ENSG00000174792 ENSG00000174792 HGNC:26300 CAD gene CAD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Uridine-responsive epileptic encephalopathy False 1 0;0;100 6.185 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAVIN1 gene CAVIN1 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 613327 False 1 0;0;100 6.185 False ENSG00000177469 ENSG00000177469 HGNC:9688 CBS gene CBS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CYSTATHIONINE BETA-SYNTHASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D1A gene CC2D1A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 3, OMIM:608443 False 1 0;0;100 6.185 False ENSG00000132024 ENSG00000132024 HGNC:30237 CCDC115 gene CCDC115 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Disorder of Golgi homeostasis False 1 0;0;100 6.185 False ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC65 gene CCDC65 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 30166424 False 1 0;0;100 6.185 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCM2L gene CCM2L Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Tetralogy of Fallot False 1 0;0;100 6.185 False ENSG00000101331 ENSG00000101331 HGNC:16153 CCNO gene CCNO Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 29 30166424 False 1 0;0;100 6.185 False ENSG00000152669 ENSG00000152669 HGNC:18576 CCT6A gene CCT6A Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT6A-related neurodevelopmental disorder with or without brain abnormalities 39480921 False 1 0;0;100 6.185 False ENSG00000146731 ENSG00000146731 HGNC:1620 CD151 gene CD151 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 35519797;20301543 False 1 0;50;50 6.185 False ENSG00000177697 ENSG00000177697 HGNC:1630 CEP162 gene CEP162 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy False 1 0;0;100 6.185 False ENSG00000135315 ENSG00000135315 HGNC:21107 CHD2 gene CHD2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY False 1 0;0;100 6.185 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHRDL1 gene CHRDL1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MEGALOCORNEA, X-LINKED False 1 0;0;100 6.185 False ENSG00000101938 ENSG00000101938 HGNC:29861 CHRNA4 gene CHRNA4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 False 1 0;0;100 6.185 False ENSG00000101204 ENSG00000101204 HGNC:1958 CIB2 gene CIB2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal USHER SYNDROME TYPE 1J;NONSYNDROMIC DEAFNESS DFNB48 False 1 0;0;100 6.185 False ENSG00000136425 ENSG00000136425 HGNC:24579 CISD2 gene CISD2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal WOLFRAM SYNDROME TYPE 2 False 1 0;0;100 6.185 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN5 gene CLCN5 Expert Review Red;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 1, OMIM:300009;Hypophosphatemic rickets, OMIM:300554;Nephrolithiasis, type I, OMIM:310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 36495297;38267993;36307859;37229200 False 1 0;0;100 6.185 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLDN19 gene CLDN19 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT False 1 0;0;100 6.185 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLMP gene CLMP Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome, OMIM:615237 22155368 False 1 0;50;50 6.185 False ENSG00000166250 ENSG00000166250 HGNC:24039 CLN3 gene CLN3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 False 1 0;0;100 6.185 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 False 1 0;0;100 6.185 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET;CEROID LIPOFUSCINOSIS, NEURONAL, 6 False 1 0;0;100 6.185 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT;NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 False 1 0;0;100 6.185 False ENSG00000182372 ENSG00000182372 HGNC:2079 CNBP gene CNBP Expert list;Expert Review Red Fetal anomalies Fetal (including NIPD) Other Myotonic dystrophy 2, OMIM:602668 False 1 100;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 ENSG00000169714 ENSG00000169714 HGNC:13164 COL4A3 gene COL4A3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ALPORT SYNDROME AUTOSOMAL RECESSIVE;ALPORT SYNDROME AUTOSOMAL DOMINANT False 1 0;0;100 6.185 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALPORT SYNDROME AUTOSOMAL RECESSIVE False 1 0;0;100 6.185 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL5A1 gene COL5A1 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, classic type 130000 False 1 0;0;100 6.185 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, classic type 130000 False 1 0;0;100 6.185 False ENSG00000204262 ENSG00000204262 HGNC:2210 COL9A3 gene COL9A3 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type VI, OMIM:620022;Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 15551337;31090205;25381065;24273071;33570243;30450842 False 1 0;0;100 6.185 False ENSG00000092758 ENSG00000092758 HGNC:2219 COQ8A gene COQ8A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016 False 1 0;0;100 6.185 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX10 gene COX10 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 1 0;0;100 6.185 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME;MITOCHONDRIAL COMPLEX IV DEFICIENCY False 1 0;0;100 6.185 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX6B1 gene COX6B1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 1 0;0;100 6.185 False ENSG00000126267 ENSG00000126267 HGNC:2280 CPS1 gene CPS1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000021826 ENSG00000021826 HGNC:2323 CRB1 gene CRB1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 8;RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE False 1 0;0;100 6.185 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 False 1 0;0;100 6.185 False ENSG00000105392 ENSG00000105392 HGNC:2383 CSTA gene CSTA Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 4, OMIM:607936 21944047;12890214;25400170;22066523 False 1 0;50;50 6.185 False ENSG00000121552 ENSG00000121552 HGNC:2481 CSTB gene CSTB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 1 0;0;100 6.185 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTNS gene CTNS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CYSTINOSIS NEPHROPATHIC TYPE;CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE;CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE False 1 0;0;100 6.185 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSC gene CTSC Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome, OMIM:245000;Haim-Munk syndrome, OMIM:245010 32601924;14974080;11106356;10581027;10662808 False 1 0;0;100 6.185 False ENSG00000109861 ENSG00000109861 HGNC:2528 CYC1 gene CYC1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 False 1 0;0;100 6.185 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYP19A1 gene CYP19A1 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aromatase deficiency, OMIM:613546;Aromatase excess syndrome, OMIM:139300 False 1 0;100;0 6.185 False ENSG00000137869 ENSG00000137869 HGNC:2594 CYP24A1 gene CYP24A1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal cystic kidney disease;hypercalcaemia;nephrocalcinosis 28324001;34307984;22337913;27105398 False 1 0;0;100 6.185 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I, OMIM:264700 34492747;9486994;27473561;12050193;9415400;33823104 False 1 0;0;100 6.185 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081 28548312;15128933 False 1 0;0;100 6.185 False ENSG00000186104 ENSG00000186104 HGNC:20580 D2HGDH gene D2HGDH Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, OMIM:600721 False 1 0;0;100 6.185 False ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASEQ False 1 0;0;100 6.185 False ENSG00000137992 ENSG00000137992 HGNC:2698 DDB2 gene DDB2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE False 1 0;0;100 6.185 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 False 1 0;0;100 6.185 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA False 1 0;0;100 6.185 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMPLEX HEREDITARY SPASTIC PARAPLEGIA False 1 0;0;100 6.185 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDOST gene DDOST Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR False 1 0;0;100 6.185 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDX17 gene DDX17 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 39405200 False 1 0;0;100 6.185 False ENSG00000100201 ENSG00000100201 HGNC:2740 DDX6 gene DDX6 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 31422817 False 1 0;50;50 6.185 False ENSG00000110367 ENSG00000110367 HGNC:2747 DEAF1 gene DEAF1 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171;Vulto-van Silfout-de Vries syndrome, OMIM:615828 28940898;30923367;26048982;24726472;26834045 False 1 0;0;100 6.185 False ENSG00000177030 ENSG00000177030 HGNC:14677 DET1 gene DET1 Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurological defects and lethality 39937864 False 1 0;0;100 6.185 False ENSG00000140543 ENSG00000140543 HGNC:25477 DHH gene DHH Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 46XY partial gonadal dysgenesis, with minifascicular neuropathy;46XY sex reversal 7 False 1 0;100;0 6.185 False ENSG00000139549 ENSG00000139549 HGNC:2865 DICER1 gene DICER1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GLOW syndrome, somatic mosaic, OMIM:618272;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800;Pleuropulmonary blastoma, OMIM:601200 35114704;29343557;33208384;31232238;27960159;24676357;26227654 False 1 0;0;100 6.185 False ENSG00000100697 ENSG00000100697 HGNC:17098 DLAT gene DLAT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE E2 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 False 1 0;0;100 6.185 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLX3 gene DLX3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IV, OMIM:104510;Trichodontoosseous syndrome, OMIM:190320 26104267;26762616 False 1 0;0;100 6.185 False ENSG00000064195 ENSG00000064195 HGNC:2916 DMP1 gene DMP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOPHOSPHATEMIC RICKETS, AR False 1 0;0;100 6.185 False ENSG00000152592 ENSG00000152592 HGNC:2932 DMPK gene DMPK Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) Other Myotonic dystrophy 1, OMIM:160900 False 1 33;0;67 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAH14 gene DNAH14 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder False 1 0;0;100 6.185 False ENSG00000185842 ENSG00000185842 HGNC:2945 DNAH2 gene DNAH2 Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrops;Complex cardiopathy 32732226 False 1 0;0;100 6.185 False ENSG00000183914 ENSG00000183914 HGNC:2948 DOCK8 gene DOCK8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE False 1 0;0;100 6.185 False ENSG00000107099 ENSG00000107099 HGNC:19191 DSC2 gene DSC2 Expert Review Red Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia, familial, 11 40188065 False 1 0;0;100 6.185 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSPP gene DSPP Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II;DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 False 1 0;0;100 6.185 False ENSG00000152591 ENSG00000152591 HGNC:3054 DTNA gene DTNA Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 36799992 False 1 0;0;100 6.185 False ENSG00000134769 ENSG00000134769 HGNC:3057 DUSP6 gene DUSP6 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypogonadotropic hypogonadism 19 with or without anosmia 615269 False 1 0;100;0 6.185 False ENSG00000139318 ENSG00000139318 HGNC:3072 EDA gene EDA Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypohidrotic ectodermal dysplasia;Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100 False 1 25;0;75 6.185 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) Unknown Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 False 1 0;0;100 6.185 False ENSG00000135960 ENSG00000135960 HGNC:2895 EGR2 gene EGR2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 False 1 0;0;100 6.185 False ENSG00000122877 ENSG00000122877 HGNC:3239 ELFN1 gene ELFN1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 False 1 0;0;100 6.185 False ENSG00000225968 ENSG00000225968 HGNC:33154 EPHX1 gene EPHX1 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypercholanemia, familial;?Fetal hydantoin syndrome;Diphenylhydantoin toxicity False 1 0;100;0 6.185 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC6L2 gene ERCC6L2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BONE MARROW FAILURE SYNDROME 2 False 1 0;0;100 6.185 False ENSG00000182150 ENSG00000182150 HGNC:26922 ETHE1 gene ETHE1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ETHYLMALONIC ENCEPHALOPATHY False 1 0;0;100 6.185 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXPH5 gene EXPH5 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM:615028;INHERITED SKIN FRAGILITY 24443915;23176819;32176379;24005056;27730671;27384765 False 1 0;50;50 6.185 False ENSG00000110723 ENSG00000110723 HGNC:30578 FAM161A gene FAM161A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 28 False 1 0;0;100 6.185 False ENSG00000170264 ENSG00000170264 HGNC:25808 FARS2 gene FARS2 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) Neurometabolic disorder due to FARS2 deficiency 29326872;28043061;27095821;29126765;27549011 False 1 0;0;100 6.185 False ENSG00000145982 ENSG00000145982 HGNC:21062 FBP1 gene FBP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXO11 gene FBXO11 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Variable Neurodevelopmental Disorder;Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 30057029 False 1 0;0;100 6.185 False ENSG00000138081 ENSG00000138081 HGNC:13590 FERMT3 gene FERMT3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III OMIM:612840 19064721;19234460 False 1 0;0;100 6.185 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGD4 gene FGD4 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease 609311 False 1 0;100;0 6.185 False ENSG00000139132 ENSG00000139132 HGNC:19125 FGF12 gene FGF12 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY False 1 0;0;100 6.185 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF17 gene FGF17 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypogonadotropic hypogonadism 20 with or without anosmia 615270 False 1 0;100;0 6.185 False ENSG00000158815 ENSG00000158815 HGNC:3673 FGF20 gene FGF20 Expert Review Red;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Renal hypodysplasia/aplasia 2, 615721 22698282;23112089 False 1 0;0;0 6.185 False ENSG00000078579 ENSG00000078579 HGNC:3677 FGF23 gene FGF23 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumoral calcinosis, hyperphosphatemic, familial, OMIM:6211900;Hypophosphatemic rickets, autosomal dominant, OMIM:6193100 False 1 0;0;100 6.185 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGG gene FGG Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital;Hypofibrinogenemia, congenital 39891418 False 1 0;0;100 6.185 False ENSG00000171557 ENSG00000171557 HGNC:3694 FHL1 gene FHL1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED False 1 0;0;100 6.185 False ENSG00000022267 ENSG00000022267 HGNC:3702 FLAD1 gene FLAD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. False 1 0;0;100 6.185 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLCN gene FLCN Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome, 135150;Pneumothorax, primary spontaneous, OMIM:173600 19785621;31266032 False 1 0;0;100 6.185 False ENSG00000154803 ENSG00000154803 HGNC:27310 FLRT3 gene FLRT3 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypogonadotropic hypogonadism 21 with anosmia 615271 False 1 0;100;0 6.185 False ENSG00000125848 ENSG00000125848 HGNC:3762 FMR1 gene FMR1 Expert Review Red;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) Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623 False 1 0;0;100 6.185 False ENSG00000102081 ENSG00000102081 HGNC:3775 FOXN1 gene FOXN1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ALOPECIA AND T-CELL IMMUNODEFICIENCY False 1 0;0;100 6.185 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP1 gene FOXP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES False 1 0;0;100 6.185 False ENSG00000114861 ENSG00000114861 HGNC:3823 FRMD7 gene FRMD7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females NYSTAGMUS 1, CONGENITAL, X-LINKED False 1 0;0;100 6.185 False ENSG00000165694 ENSG00000165694 HGNC:8079 FRMPD4 gene FRMPD4 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual Disability, X-linked 104, OMIM:300983 25644381;29267967 False 1 0;50;50 6.185 False ENSG00000169933 ENSG00000169933 HGNC:29007 FTCD gene FTCD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000160282 ENSG00000160282 HGNC:3974 FTSJ1 gene FTSJ1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 44 False 1 0;0;100 6.185 False ENSG00000068438 ENSG00000068438 HGNC:13254 FZD5 gene FZD5 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma 11, OMIM:620731 33633439;36695497;32737437;26908622 False 1 0;50;50 6.185 False ENSG00000163251 ENSG00000163251 HGNC:4043 GABRB3 gene GABRB3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHIES;CHILDHOOD ABSENCE EPILEPSY TYPE 5 False 1 0;0;100 6.185 False ENSG00000166206 ENSG00000166206 HGNC:4083 GALNT3 gene GALNT3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900 False 1 0;0;100 6.185 False ENSG00000115339 ENSG00000115339 HGNC:4125 GAMT gene GAMT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAS8 gene GAS8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 30166424 False 1 0;0;100 6.185 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATM gene GATM Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 False 1 0;0;100 6.185 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCH1 gene GCH1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal GTP CYCLOHYDROLASE 1 DEFICIENCY;DYSTONIA TYPE 5 False 1 0;0;100 6.185 False ENSG00000131979 ENSG00000131979 HGNC:4193 GDAP1 gene GDAP1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4A 39945447 False 1 0;0;100 6.185 False ENSG00000104381 ENSG00000104381 HGNC:15968 GDI1 gene GDI1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 48;MENTAL RETARDATION X-LINKED TYPE 41 False 1 0;0;100 6.185 False ENSG00000203879 ENSG00000203879 HGNC:4226 GJB2 gene GJB2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VOHWINKEL SYNDROME;ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME;PALMOPLANTAR KERATODERMA WITH DEAFNESS;BART-PUMPHREY SYNDROME;DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 23035047;24346921 False 1 100;0;0 6.185 False ENSG00000165474 ENSG00000165474 HGNC:4284 GK gene GK Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females GLYCEROL KINASE DEFICIENCY 8651297 False 1 0;0;100 6.185 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLIS2 gene GLIS2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM:611498 17618285;23559409;31676329 False 1 0;50;50 6.185 False ENSG00000126603 ENSG00000126603 HGNC:29450 GLUD1 gene GLUD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPERINSULINISM-HYPERAMMONEMIA SYNDROME False 1 0;0;100 6.185 False ENSG00000148672 ENSG00000148672 HGNC:4335 GMPPA gene GMPPA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION False 1 0;0;100 6.185 False ENSG00000144591 ENSG00000144591 HGNC:22923 GNAI1 gene GNAI1 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 34819662;38441201;39083633;33473207;34685729 False 1 0;50;50 6.185 True ENSG00000127955 ENSG00000127955 HGNC:4384 GNAQ gene GNAQ Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300;Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 23656586;37606556;36263782 False 1 0;50;50 6.185 False ENSG00000156052 ENSG00000156052 HGNC:4390 GPAA1 gene GPAA1 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 37510348;34703884;29100095;39152716 False 1 0;50;50 6.185 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRIA3 gene GRIA3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 94 False 1 0;0;100 6.185 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRIK2 gene GRIK2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 False 1 0;0;100 6.185 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN2A gene GRIN2A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS;LANDAU-KLEFFNER SYNDROME False 1 0;0;100 6.185 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRM1 gene GRM1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 False 1 0;50;50 6.185 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRM6 gene GRM6 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B False 1 0;0;100 6.185 False ENSG00000113262 ENSG00000113262 HGNC:4598 GUK1 gene GUK1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21 39230499 False 1 0;0;100 6.185 False ENSG00000143774 ENSG00000143774 HGNC:4693 H19 gene H19 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor 2 194071;Beckwith-Wiedemann syndrome 130650;Silver-Russell syndrome 180860 False 1 0;50;50 6.185 False Other ENSG00000130600 ENSG00000130600 HGNC:4713 HACD1 gene HACD1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 11, OMIM:619967 False 1 0;0;100 6.185 False ENSG00000165996 ENSG00000165996 HGNC:9639 HACE1 gene HACE1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HACE1 related disorder False 1 0;0;100 6.185 False ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000138796 ENSG00000138796 HGNC:4799 HAX1 gene HAX1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE False 1 0;0;100 6.185 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCN1 gene HCN1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 False 1 0;0;100 6.185 False ENSG00000164588 ENSG00000164588 HGNC:4845 HDAC4 gene HDAC4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY-MENTAL RETARDATION SYNDROME False 1 0;0;100 6.185 False ENSG00000068024 ENSG00000068024 HGNC:14063 HEATR3 gene HEATR3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diamond-Blackfan anemia 21, OMIM:620072 35213692 False 1 0;0;100 6.185 False ENSG00000155393 ENSG00000155393 HGNC:26087 HECW2 gene HECW2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HECW2 False 1 0;0;100 6.185 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEXA gene HEXA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GM2-GANGLIOSIDOSIS TYPE 1 23035047 False 1 0;0;100 6.185 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 False 1 0;0;100 6.185 False ENSG00000049860 ENSG00000049860 HGNC:4879 HINT1 gene HINT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE False 1 0;0;100 6.185 False ENSG00000169567 ENSG00000169567 HGNC:4912 HLCS gene HLCS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HOLOCARBOXYLASE SYNTHETASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000134240 ENSG00000134240 HGNC:5008 HOXA2 gene HOXA2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia with or without hearing impairment (AD), OMIM:612290 32649979;27503514;28109504;18394579;23775976;31567444 False 1 0;0;100 6.185 False ENSG00000105996 ENSG00000105996 HGNC:5103 HOXC13 gene HOXC13 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PURE HAIR AND NAIL ECTODERMAL DYSPLASIA False 1 0;0;100 6.185 False ENSG00000123364 ENSG00000123364 HGNC:5125 HPGD gene HPGD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CRANIOOSTEOARTHROPATHY False 1 0;0;100 6.185 False ENSG00000164120 ENSG00000164120 HGNC:5154 HPRT1 gene HPRT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322 False 1 0;0;100 6.185 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HERMANSKY-PUDLAK SYNDROME False 1 0;0;100 6.185 False ENSG00000107521 ENSG00000107521 HGNC:5163 HSD17B10 gene HSD17B10 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY;MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 False 1 0;0;100 6.185 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD3B7 gene HSD3B7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 False 1 0;0;100 6.185 False ENSG00000099377 ENSG00000099377 HGNC:18324 HYAL1 gene HYAL1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 9 False 1 0;0;100 6.185 False ENSG00000114378 ENSG00000114378 HGNC:5320 HYDIN gene HYDIN Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 5 30712880 False 1 0;0;100 6.185 False ENSG00000157423 ENSG00000157423 HGNC:19368 IDH2 gene IDH2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, OMIM:613657 20847235;38782764 False 1 0;0;100 6.185 False ENSG00000182054 ENSG00000182054 HGNC:5383 IGSF1 gene IGSF1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT False 1 0;0;100 6.185 False ENSG00000147255 ENSG00000147255 HGNC:5948 IL17RD gene IL17RD Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypogonadotropic hypogonadism 18 with or without anosmia 615267 False 1 0;100;0 6.185 False ENSG00000144730 ENSG00000144730 HGNC:17616 IL1RN gene IL1RN Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852 19494219;19494218 False 1 0;0;100 6.185 False ENSG00000136689 ENSG00000136689 HGNC:6000 IQSEC2 gene IQSEC2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 1 False 1 0;0;100 6.185 False ENSG00000124313 ENSG00000124313 HGNC:29059 IRF4 gene IRF4 Expert Review Red Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 131 36917008;36662884;29537367;29408330 False 1 0;0;100 6.185 False ENSG00000137265 ENSG00000137265 HGNC:6119 ITCH gene ITCH Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 20170897;31091003 False 1 33;33;33 6.185 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA7 gene ITGA7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL MUSCULAR DYSTROPHY 9590299 False 1 0;0;100 6.185 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITPR1 gene ITPR1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360;Spinocerebellar ataxia 15, OMIM:606658;Gillespie syndrome, OMIM:206700 False 1 0;0;100 6.185 False ENSG00000150995 ENSG00000150995 HGNC:6180 IVD gene IVD Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ISOVALERIC ACIDEMIA False 1 0;0;100 6.185 False ENSG00000128928 ENSG00000128928 HGNC:6186 JAGN1 gene JAGN1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SEVERE CONGENITAL NEUTROPENIA False 1 0;0;100 6.185 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED False 1 0;0;100 6.185 False ENSG00000105639 ENSG00000105639 HGNC:6193 KARS gene KARS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B;DEAFNESS, AUTOSOMAL RECESSIVE 89 False 1 0;0;100 6.185 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT7 gene KAT7 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abnormal male external genitalia morphology;Tetralogy of Fallot 40186013 False 1 0;0;100 6.185 False ENSG00000136504 ENSG00000136504 HGNC:17016 KBTBD13 gene KBTBD13 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEMALINE MYOPATHY 6 False 1 0;0;100 6.185 False ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA2 gene KCNA2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY. False 1 0;0;100 6.185 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNC1 gene KCNC1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, PROGRESSIVE MYOCLONIC 7 False 1 0;0;100 6.185 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNE1 gene KCNE1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347 False 1 0;0;100 6.185 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNJ10 gene KCNJ10 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE False 1 0;0;100 6.185 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL;FAMILIAL HYPERINSULINISM False 1 0;0;100 6.185 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ6 gene KCNJ6 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, OMIM:614098 34964963;36071510;25620207;29852244 False 1 0;50;50 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157542 ENSG00000157542 HGNC:6267 KCNQ1 gene KCNQ1 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome 1, OMIM:192500 27539165 False 1 0;0;100 6.185 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BENIGN NEONATAL EPILEPSY TYPE 1;EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 30712880 False 1 0;0;100 6.185 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNQ3 syndrome False 1 0;0;100 6.185 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability with or without Epileptic Encephalopathy;Intellectual developmental disorder, autosomal dominant 46, OMIM:617601 False 1 0;50;50 6.185 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCTD7 gene KCTD7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS;PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 False 1 0;0;100 6.185 False ENSG00000243335 ENSG00000243335 HGNC:21957 KISS1R gene KISS1R Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia 614837 False 1 0;0;100 6.185 False ENSG00000116014 ENSG00000116014 HGNC:4510 KIT gene KIT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HUMAN PIEBALDISM False 1 0;0;100 6.185 False ENSG00000157404 ENSG00000157404 HGNC:6342 KMT5B gene KMT5B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KMT5B syndrome False 1 0;0;100 6.185 False ENSG00000110066 ENSG00000110066 HGNC:24283 LAMA3 gene LAMA3 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 226700 False 1 0;100;0 6.185 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 226700;Epidermolysis bullosa, junctional 226650 False 1 0;100;0 6.185 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 226700;Epidermolysis bullosa, junctional 226650 False 1 0;100;0 6.185 False ENSG00000058085 ENSG00000058085 HGNC:6493 LAMP2 gene LAMP2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females DANON DISEASE False 1 0;0;100 6.185 False ENSG00000005893 ENSG00000005893 HGNC:6501 LEMD3 gene LEMD3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MELORHEOSTOSIS;BUSCHKE-OLLENDORFF SYNDROME False 1 0;0;100 6.185 False ENSG00000174106 ENSG00000174106 HGNC:28887 LHX2 gene LHX2 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 1 0;0;100 6.185 False ENSG00000106689 ENSG00000106689 HGNC:6594 LIPN gene LIPN Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 8;Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 21439540;39891418 False 1 0;25;75 6.185 False ENSG00000204020 ENSG00000204020 HGNC:23452 LMOD1 gene LMOD1 Expert list;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) False 1 0;0;100 6.185 False ENSG00000163431 ENSG00000163431 HGNC:6647 LPIN2 gene LPIN2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628 29912021 False 1 0;0;100 6.185 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRAT gene LRAT Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14, OMIM:613341 18055821;17011878;11381255 False 1 0;50;50 6.185 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRBA gene LRBA Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 22721650;22981790;25468195;26206937;22608502 False 1 0;50;50 6.185 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRIT3 gene LRIT3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS False 1 0;50;50 6.185 False ENSG00000183423 ENSG00000183423 HGNC:24783 LRPPRC gene LRPPRC Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME, FRENCH-CANADIAN TYPE False 1 0;0;100 6.185 False ENSG00000138095 ENSG00000138095 HGNC:15714 LTBP2 gene LTBP2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MICROSPHEROPHAKIA;PRIMARY CONGENITAL GLAUCOMA TYPE 3D False 1 0;0;100 6.185 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAN2B1 gene MAN2B1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LYSOSOMAL ALPHA-MANNOSIDOSIS False 1 0;0;100 6.185 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAOA gene MAOA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females BRUNNER SYNDROME False 1 0;0;100 6.185 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAP3K3 gene MAP3K3 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations 5 25728774 False 1 0;0;100 6.185 False ENSG00000198909 ENSG00000198909 HGNC:6855 MAPKBP1 gene MAPKBP1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, OMIM:617271 28089251 False 1 0;0;100 6.185 False ENSG00000137802 ENSG00000137802 HGNC:29536 MC2R gene MC2R Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GLUCOCORTICOID DEFICIENCY 1 False 1 0;0;100 6.185 False ENSG00000185231 ENSG00000185231 HGNC:6930 MCCC1 gene MCCC1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONYL-COA EPIMERASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000124370 ENSG00000124370 HGNC:16732 MECP2 gene MECP2 Expert Review Red;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) ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS;MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13;MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE;CHROMOSOME XQ28 DUPLICATION SYNDROME;RETT SYNDROME (RTT)[ 30712880 False 1 0;0;100 6.185 False ENSG00000169057 ENSG00000169057 HGNC:6990 MET gene MET Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Arthrogryposis, distal, type 1 30777867;38429387 False 1 0;0;100 6.185 False ENSG00000105976 ENSG00000105976 HGNC:7029 MFSD8 gene MFSD8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS False 1 0;0;100 6.185 False ENSG00000164073 ENSG00000164073 HGNC:28486 MICU1 gene MICU1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MYOPATHY WITH EXTRAPYRAMIDAL SIGNS False 1 0;0;100 6.185 False ENSG00000107745 ENSG00000107745 HGNC:1530 MMAA gene MMAA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE CBLA False 1 0;0;100 6.185 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE CBLB False 1 0;0;100 6.185 False ENSG00000139428 ENSG00000139428 HGNC:19331 MPI gene MPI Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 False 1 0;0;100 6.185 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 6 False 1 0;0;100 6.185 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRE11 gene MRE11 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ATAXIA TELANGIECTASIA-LIKE DISORDER False 1 0;0;100 6.185 False ENSG00000020922 ENSG00000020922 HGNC:7230 MTHFR gene MTHFR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTR gene MTR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLCOBALAMIN DEFICIENCY TYPE G False 1 0;0;100 6.185 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE False 1 0;0;100 6.185 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TP gene MT-TP Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MITOCHONDRIAL MERRF False 1 0;0;100 6.185 False ENSG00000210196 ENSG00000210196 HGNC:7494 MTX2 gene MTX2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 32917887 False 1 0;0;100 6.185 False ENSG00000128654 ENSG00000128654 HGNC:7506 MUT gene MUT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE MUT False 1 0;0;100 6.185 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC2 gene MYBPC2 Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal akinesia;Hydrops;Hygroma;Multiple pterygium 32732226 False 1 0;0;100 6.185 False ENSG00000086967 ENSG00000086967 HGNC:7550 MYH9 gene MYH9 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 16969870;31384440 False 1 25;0;75 6.185 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO5A gene MYO5A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GRISCELLI SYNDROME TYPE 3;ELEJALDE SYNDROME False 1 0;0;100 6.185 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYO5B gene MYO5B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 False 1 0;0;100 6.185 False ENSG00000167306 ENSG00000167306 HGNC:7603 MYO7A gene MYO7A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DEAFNESS AUTOSOMAL RECESSIVE TYPE 2;USHER SYNDROME TYPE 1B False 1 0;0;100 6.185 False ENSG00000137474 ENSG00000137474 HGNC:7606 MYT1L gene MYT1L Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYT1L syndrome False 1 0;0;100 6.185 False ENSG00000186487 ENSG00000186487 HGNC:7623 NAGS gene NAGS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency;N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 39891418 False 1 0;0;100 6.185 False ENSG00000161653 ENSG00000161653 HGNC:17996 NARS gene NARS Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 32738225;32788587 False 1 0;0;100 6.185 False ENSG00000134440 ENSG00000134440 HGNC:7643 NDUFA1 gene NDUFA1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY False 1 0;0;100 6.185 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA12 gene NDUFA12 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 32341820;35141356 False 1 0;0;100 6.185 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFS4 gene NDUFS4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY;LEIGH SYNDROME DUP;LEIGH SYNDROME False 1 0;0;100 6.185 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY False 1 0;0;100 6.185 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY False 1 0;0;100 6.185 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY False 1 0;0;100 6.185 False ENSG00000167792 ENSG00000167792 HGNC:7716 NFASC gene NFASC Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction 39891418 False 1 0;0;100 6.185 False ENSG00000163531 ENSG00000163531 HGNC:29866 NFU1 gene NFU1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 False 1 0;0;100 6.185 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF DEGLYCOSYLATION False 1 0;0;100 6.185 False ENSG00000151092 ENSG00000151092 HGNC:17646 NKX2-1 gene NKX2-1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BENIGN HEREDITARY CHOREA;CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS False 1 0;0;100 6.185 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-6 gene NKX2-6 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Conotruncal heart malformations;Conotruncal heart malformations, OMIM:217095;Persistent truncus arteriosus, OMIM:217095;Persistent truncus arteriosus 25319568;15649947;32198970;39891418;25380965;24421281 False 1 0;0;100 6.185 False ENSG00000180053 ENSG00000180053 HGNC:32940 NODAL gene NODAL Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 5, OMIM:270100 9354794;19064609 False 1 25;0;75 6.185 False ENSG00000156574 ENSG00000156574 HGNC:7865 NPHS2 gene NPHS2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME, TYPE 2 False 1 0;0;100 6.185 False ENSG00000116218 ENSG00000116218 HGNC:13394 NPL gene NPL Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sialic aciduria 33082562 False 1 0;0;100 6.185 False ENSG00000135838 ENSG00000135838 HGNC:16781 NPR3 gene NPR3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Boudin-Mortier syndrome, OMIM:619543 30032985;10468599 False 1 0;0;100 6.185 False ENSG00000113389 ENSG00000113389 HGNC:7945 NPRL2 gene NPRL2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 2, OMIM:617116 29281825;31625153;22268191;27173016;33461085 False 1 0;0;100 6.185 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 3, OMIM:617118 27173016;33461085;35136953;26285051 False 1 0;0;100 6.185 False ENSG00000103148 ENSG00000103148 HGNC:14124 NRXN2 gene NRXN2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 36923655 False 1 0;50;50 6.185 False ENSG00000110076 ENSG00000110076 HGNC:8009 NSMF gene NSMF Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838 False 1 0;100;0 6.185 False Other ENSG00000165802 ENSG00000165802 HGNC:29843 NSUN2 gene NSUN2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 5, OMIM:611091;AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 37305761;36420349;38643142;33002343 False 1 0;50;50 6.185 False ENSG00000037474 ENSG00000037474 HGNC:25994 NT5C2 gene NT5C2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive 613162 False 1 0;100;0 6.185 False ENSG00000076685 ENSG00000076685 HGNC:8022 NT5C3A gene NT5C3A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000122643 ENSG00000122643 HGNC:17820 NT5E gene NT5E Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal arterial calcification;joint calcification 21288095;32522903;28825389;26178434;34999808;27045881;26010187 False 1 0;0;100 6.185 False ENSG00000135318 ENSG00000135318 HGNC:8021 NTRK1 gene NTRK1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS False 1 0;0;100 6.185 False ENSG00000198400 ENSG00000198400 HGNC:8031 NUAK2 gene NUAK2 Expert Review Red;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Anencephaly 2, OMIM:619452 22689267;32845958 False 1 0;50;50 6.185 False ENSG00000163545 ENSG00000163545 HGNC:29558 NYX gene NYX Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A False 1 0;0;100 6.185 False ENSG00000188937 ENSG00000188937 HGNC:8082 OSBPL9 gene OSBPL9 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex 40182349 False 1 0;0;100 6.185 False ENSG00000117859 ENSG00000117859 HGNC:16386 OTC gene OTC Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ORNITHINE TRANSCARBAMYLASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTOGL gene OTOGL Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MODERATE SENSORINEURAL HEARING LOSS False 1 0;0;100 6.185 False ENSG00000165899 ENSG00000165899 HGNC:26901 OTULIN gene OTULIN Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 False 1 0;0;100 6.185 False ENSG00000154124 ENSG00000154124 HGNC:25118 OXCT1 gene OXCT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000083720 ENSG00000083720 HGNC:8527 PACSIN3 gene PACSIN3 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 27, OMIM:621343 False 1 0;0;100 6.185 False ENSG00000165912 ENSG00000165912 HGNC:8572 PAH gene PAH Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PHENYLKETONURIA;NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA False 1 0;0;100 6.185 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAX9 gene PAX9 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TOOTH AGENESIS, SELECTIVE, 3 False 1 0;0;100 6.185 False ENSG00000198807 ENSG00000198807 HGNC:8623 PCBD1 gene PCBD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D False 1 0;0;100 6.185 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROPIONIC ACIDEMIA False 1 0;0;100 6.185 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROPIONIC ACIDEMIA False 1 0;0;100 6.185 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH19 gene PCDH19 Expert Review Red;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 9 False 1 0;0;100 6.185 False ENSG00000165194 ENSG00000165194 HGNC:14270 PDE6G gene PDE6G Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 57 False 1 0;0;100 6.185 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDSS2 gene PDSS2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 3 False 1 0;0;100 6.185 False ENSG00000164494 ENSG00000164494 HGNC:23041 PGK1 gene PGK1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females PHOSPHOGLYCERATE KINASE 1 DEFICIENCY False 1 0;0;100 6.185 False ENSG00000102144 ENSG00000102144 HGNC:8896 PLA2G6 gene PLA2G6 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B;INFANTILE NEUROAXONAL DYSTROPHY 1 False 1 0;0;100 6.185 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLCE1 gene PLCE1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME, TYPE 3 False 1 0;0;100 6.185 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLP1 gene PLP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females SPASTIC PARAPLEGIA X-LINKED TYPE 2;LEUKODYSTROPHY HYPOMYELINATING TYPE 1 False 1 0;0;100 6.185 False ENSG00000123560 ENSG00000123560 HGNC:9086 PLXNB3 gene PLXNB3 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease with neurodevelopmental disabilities False 1 0;0;100 6.185 False ENSG00000198753 ENSG00000198753 HGNC:9105 PMP22 gene PMP22 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, recurrent, with pressure palsies 162500;Charcot-Marie-Tooth disease, type 1A 118220;Charcot-Marie-Tooth disease, type 1E 118300;Dejerine-Sottas disease 145900;Neuropathy, inflammatory demyelinating 139393;Roussy-Levy syndrome 180800 False 1 0;100;0 6.185 False ENSG00000109099 ENSG00000109099 HGNC:9118 PNPT1 gene PNPT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RESPIRATORY CHAIN DISORDER;HEARING LOSS False 1 0;0;100 6.185 False ENSG00000138035 ENSG00000138035 HGNC:23166 POC1B gene POC1B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY False 1 0;0;100 6.185 False ENSG00000139323 ENSG00000139323 HGNC:30836 PPA2 gene PPA2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sudden arrhythmic cardiac death after infectious or alcohol trigger False 1 0;0;100 6.185 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPM1D gene PPM1D Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPM1D syndrome False 1 0;0;100 6.185 False ENSG00000170836 ENSG00000170836 HGNC:9277 PPT1 gene PPT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 False 1 0;0;100 6.185 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRDM12 gene PRDM12 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII False 1 0;0;100 6.185 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRKCSH gene PRKCSH Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 12577059;24886261;12529853 False 1 0;0;100 6.185 False ENSG00000130175 ENSG00000130175 HGNC:9411 PROK2 gene PROK2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 17054399;30712880 False 1 0;0;100 6.185 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia 244200 17054399 False 1 0;0;100 6.185 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000175325 ENSG00000175325 HGNC:9455 PRPS1 gene PRPS1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY;ARTS SYNDROME;CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5;DEAFNESS X-LINKED TYPE 1 False 1 0;0;100 6.185 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME;AUTOSOMAL RECESSIVE MENTAL RETARDATION False 1 0;0;100 6.185 False ENSG00000167371 ENSG00000167371 HGNC:30500 PRSS12 gene PRSS12 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 False 1 0;0;100 6.185 False ENSG00000164099 ENSG00000164099 HGNC:9477 PRX gene PRX Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dejerine-Sottas disease, OMIM:145900 False 1 0;100;0 6.185 False ENSG00000105227 ENSG00000105227 HGNC:13797 PSMB8 gene PSMB8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 False 1 0;0;100 6.185 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteasome-associated autoinflammatory syndrome 6, OMIM:620796 33727065;34819510 False 1 0;0;100 6.185 False ENSG00000240065 ENSG00000240065 HGNC:9546 PTCHD1 gene PTCHD1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females AUTISM/ID False 1 0;0;100 6.185 False ENSG00000165186 ENSG00000165186 HGNC:26392 PYGL gene PYGL Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI;GLYCOGEN STORAGE DISEASE TYPE VI 39891418 False 1 0;0;100 6.185 False ENSG00000100504 ENSG00000100504 HGNC:9725 QDPR gene QDPR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BH4-DEFICIENT HYPERPHENYLALANINEMIA C False 1 0;0;100 6.185 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB35 gene RAB35 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 1 0;0;100 6.185 False ENSG00000111737 ENSG00000111737 HGNC:9774 RAB39B gene RAB39B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72, OMIM:300271;Waisman syndrome, OMIM:311510 20159109;29152164 False 1 0;0;100 6.185 False ENSG00000155961 ENSG00000155961 HGNC:16499 RASGRP2 gene RASGRP2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Bleeding disorder, platelet-type, 18, OMIM:615888 24958846;18709451 False 1 0;0;100 6.185 False ENSG00000068831 ENSG00000068831 HGNC:9879 RETREG1 gene RETREG1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB False 1 0;0;100 6.185 False ENSG00000154153 ENSG00000154153 HGNC:25964 RHEB gene RHEB Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly;Intellectual disability;Focal cortical dysplasia 29051493;31337748 False 1 0;0;100 6.185 False ENSG00000106615 ENSG00000106615 HGNC:10011 RNF31 gene RNF31 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation 26008899;30936877 False 1 0;0;100 6.185 False ENSG00000092098 ENSG00000092098 HGNC:16031 ROBO2 gene ROBO2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 2, OMIM:610878 19350278;17357069;26026792;29194579;34059960;18235093;24429398 False 1 0;0;100 6.185 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROBO4 gene ROBO4 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 3, OMIM:618496 False 1 0;0;100 6.185 False ENSG00000154133 ENSG00000154133 HGNC:17985 RPE65 gene RPE65 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS False 1 0;0;100 6.185 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGRIP1 gene RPGRIP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 6;CONE-ROD DYSTROPHY 13 False 1 0;0;100 6.185 False ENSG00000092200 ENSG00000092200 HGNC:13436 RSPH1 gene RSPH1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS 30166424 False 1 0;0;100 6.185 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS 30166424 False 1 0;0;100 6.185 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPO4 gene RSPO4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ANONYCHIA CONGENITA False 1 0;0;100 6.185 False ENSG00000101282 ENSG00000101282 HGNC:16175 RTN4IP1 gene RTN4IP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EARLY-ONSET RECESSIVE OPTIC NEUROPATHY False 1 0;0;100 6.185 False ENSG00000130347 ENSG00000130347 HGNC:18647 SCN11A gene SCN11A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL INABILITY TO EXPERIENCE PAIN False 1 0;0;100 6.185 False ENSG00000168356 ENSG00000168356 HGNC:10583 SCN1B gene SCN1B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1;BRUGADA SYNDROME 5 False 1 0;0;100 6.185 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN7A gene SCN7A Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 32732226 False 1 0;0;100 6.185 False ENSG00000136546 ENSG00000136546 HGNC:10594 SCN8A gene SCN8A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 False 1 0;0;100 6.185 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCNN1A gene SCNN1A Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, OMIM:264350 8589714;31301676 False 1 0;0;100 6.185 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1G gene SCNN1G Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126 31522814;11231969;8640238;7633160 False 1 0;0;100 6.185 False ENSG00000166828 ENSG00000166828 HGNC:10602 SCO1 gene SCO1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 1 0;0;100 6.185 False ENSG00000133028 ENSG00000133028 HGNC:10603 SDHA gene SDHA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME False 1 0;0;100 6.185 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX II DEFICIENCY False 1 0;0;100 6.185 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHD gene SDHD Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167 26008905 False 1 0;0;100 6.185 False ENSG00000204370 ENSG00000204370 HGNC:10683 SERPINA11 gene SERPINA11 Expert Review;Expert Review Red;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Hydrops fetalis;SERPINA11-prenatal lethal disorder 33082562;31742715;28749478 False 1 0;50;50 6.185 False ENSG00000186910 ENSG00000186910 HGNC:19193 SF1 gene SF1 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 1 0;0;100 6.185 False ENSG00000168066 ENSG00000168066 HGNC:12950 SFRP4 gene SFRP4 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pyle disease, OMIM:265900 20174869;27117872;28100910;22387305;26273529;27355534;22965941;24096177 False 1 0;0;100 6.185 False ENSG00000106483 ENSG00000106483 HGNC:10778 SGCA gene SGCA Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099;Muscular dystrophy, limb-girdle, type 2D 608099 False 1 0;0;100 6.185 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286 False 1 0;0;100 6.185 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287 False 1 0;0;100 6.185 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert list;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677;Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 False 1 33;0;67 6.185 False ENSG00000102683 ENSG00000102683 HGNC:10809 SGMS2 gene SGMS2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550 32028018;30779713 False 1 0;0;100 6.185 False ENSG00000164023 ENSG00000164023 HGNC:28395 SIK1 gene SIK1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEONATAL EPILEPSY SPECTRUM False 1 0;0;100 6.185 False ENSG00000142178 ENSG00000142178 HGNC:11142 SIM1 gene SIM1 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe obesity with neurobehavioral features 28472148;23778136;23778139 False 1 0;0;100 6.185 False ENSG00000112246 ENSG00000112246 HGNC:10882 SIX1 gene SIX1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTIC SYNDROME TYPE 3;DEAFNESS AUTOSOMAL DOMINANT TYPE 23;Branchiootic syndrome 3, OMIM:608389 False 1 0;0;100 6.185 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 False 1 33;0;67 6.185 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC19A3 gene SLC19A3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 False 1 0;0;100 6.185 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC24A4 gene SLC24A4 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA5, OMIM:615887 23375655;24621671 False 1 0;50;50 6.185 False ENSG00000140090 ENSG00000140090 HGNC:10978 SLC25A15 gene SLC25A15 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME False 1 0;0;100 6.185 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC2A1 gene SLC2A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLUT1 DEFICIENCY SYNDROME TYPE 2;GLUT1 DEFICIENCY SYNDROME TYPE 1 False 1 0;0;100 6.185 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A2 gene SLC2A2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCONI-BICKEL SYNDROME False 1 0;0;100 6.185 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC37A4 gene SLC37A4 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib 232220 False 1 0;100;0 6.185 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A13 gene SLC39A13 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION;EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA False 1 0;0;100 6.185 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC46A1 gene SLC46A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050 False 1 0;0;100 6.185 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A11 gene SLC4A11 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 False 1 0;0;100 6.185 False ENSG00000088836 ENSG00000088836 HGNC:16438 SLC4A4 gene SLC4A4 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 16636648;11131345;10545938 False 1 0;0;100 6.185 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A2 gene SLC52A2 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 24253200;22740598 False 1 0;0;100 6.185 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal BROWN-VIALETTO-VAN LAERE SYNDROME False 1 0;0;100 6.185 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A5 gene SLC5A5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1, OMIM:274400 32805706;34726525;34806438;33815280;31115276 False 1 0;0;100 6.185 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC6A1 gene SLC6A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES False 1 0;0;100 6.185 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A3 gene SLC6A3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PARKINSONISM-DYSTONIA, INFANTILE False 1 0;0;100 6.185 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;0;100 6.185 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females X-LINKED CREATINE DEFICIENCY SYNDROME False 1 0;0;100 6.185 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A6 gene SLC9A6 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243;MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE False 1 0;0;100 6.185 False ENSG00000198689 ENSG00000198689 HGNC:11079 SLCO2A1 gene SLCO2A1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100;PHOAR2-enteropathy syndrome, OMIM:614441 False 1 0;0;100 6.185 False ENSG00000174640 ENSG00000174640 HGNC:10955 SMAD6 gene SMAD6 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Craniosynostosis 7, susceptibility to}, OMIM:617439;Aortic valve disease 2, OMIM:614823;{Radioulnar synostosis, nonsyndromic}, OMIM:179300 22275001;31138930;32499606;27606499 False 1 0;0;100 6.185 False ENSG00000137834 ENSG00000137834 HGNC:6772 SMARCAL1 gene SMARCAL1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 False 1 0;0;100 6.185 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMOC2 gene SMOC2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400 22152679;23317772 False 1 0;50;50 6.185 False ENSG00000112562 ENSG00000112562 HGNC:20323 SNRPE gene SNRPE Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX;Hypotrichosis 11, OMIM:615059 9621144;33792916 False 1 0;50;50 6.185 False ENSG00000182004 ENSG00000182004 HGNC:11161 SP110 gene SP110 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency 235550 False 1 0;0;100 6.185 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPR gene SPR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 False 1 0;0;100 6.185 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPRY4 gene SPRY4 Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) Unknown Hypogonadotropic hypogonadism 17 with or without anosmia 615266 False 1 0;100;0 6.185 False ENSG00000187678 ENSG00000187678 HGNC:15533 SPTBN2 gene SPTBN2 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SCA14;Infantile ataxia with oculomotor and pyramidal signs;Spinocerebellar ataxia, autosomal recessive 14, 615386 29196973;28636205 False 1 0;0;100 6.185 False ENSG00000173898 ENSG00000173898 HGNC:11276 SPTBN5 gene SPTBN5 Literature Fetal anomalies Fetal (including NIPD) Unknown Multicystic kidney;Oligohydramnios;Sacral agenesis 28007035;32732226 False 1 0;0;100 6.185 False ENSG00000137877 ENSG00000137877 HGNC:15680 SPTLC2 gene SPTLC2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC False 1 0;0;100 6.185 False ENSG00000100596 ENSG00000100596 HGNC:11278 STAG1 gene STAG1 Expert Review Red;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 Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 28119487;39224759;34440290 False 1 0;0;100 6.185 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAT1 gene STAT1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal STAT1 DEFICIENCY COMPLETE;MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE;FAMILIAL CANDIDIASIS TYPE 7 False 1 0;0;100 6.185 True ENSG00000115415 ENSG00000115415 HGNC:11362 STK4 gene STK4 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868 22294732;26117625;22174160;22952854 False 1 0;0;100 6.185 False ENSG00000101109 ENSG00000101109 HGNC:11408 STS gene STS Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ICHTHYOSIS, X-LINKED False 1 0;0;100 6.185 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3B gene STT3B Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix, OMIM:615597 33082562 False 1 0;0;100 6.185 False ENSG00000163527 ENSG00000163527 HGNC:30611 STXBP1 gene STXBP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4;ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER False 1 0;0;100 6.185 False ENSG00000136854 ENSG00000136854 HGNC:11444 STXBP2 gene STXBP2 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 33593331;38084697 False 1 0;0;100 6.185 False ENSG00000076944 ENSG00000076944 HGNC:11445 SUPT7L gene SUPT7L Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fischer-Zirnsak progeroid syndrome 38592547 False 1 0;0;100 6.185 False ENSG00000119760 ENSG00000119760 HGNC:30632 SURF1 gene SURF1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMPLEX IV DEFICIENCY;LEIGH SYNDROME False 1 0;0;100 6.185 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNGAP1 gene SYNGAP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 False 1 0;0;100 6.185 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYP gene SYP Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED SYP-RELATED False 1 0;0;100 6.185 False ENSG00000102003 ENSG00000102003 HGNC:11506 TAAR1 gene TAAR1 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellar vermis hypoplasia, cystic kidneys, polydactyly 39891418 False 1 0;0;100 6.185 False ENSG00000146399 ENSG00000146399 HGNC:17734 TAC3 gene TAC3 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839 20332248 False 1 0;50;50 6.185 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840 20332248;19079066 False 1 0;50;50 6.185 False ENSG00000169836 ENSG00000169836 HGNC:11528 TANGO2 gene TANGO2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy False 1 0;0;100 6.185 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAOK1 gene TAOK1 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575 31230721;35091509;33565190 False 1 0;0;100 6.185 False ENSG00000160551 ENSG00000160551 HGNC:29259 TAT gene TAT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TYROSINEMIA TYPE 2 False 1 0;0;100 6.185 False ENSG00000198650 ENSG00000198650 HGNC:11573 TBXAS1 gene TBXAS1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GHOSAL HEMATODIAPHYSEAL SYNDROME False 1 0;0;100 6.185 False ENSG00000059377 ENSG00000059377 HGNC:11609 TCN2 gene TCN2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency False 1 0;0;100 6.185 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERT gene TERT Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4 False 1 0;0;100 6.185 False ENSG00000164362 ENSG00000164362 HGNC:11730 TG gene TG Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3, OMIM:274700 28620499;19169491;18631008;33832185;12915634 False 1 0;0;100 6.185 False ENSG00000042832 ENSG00000042832 HGNC:11764 TGFB1 gene TGFB1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Camurati-Engelmann disease, OMIM:131300 False 1 0;0;100 6.185 False ENSG00000105329 ENSG00000105329 HGNC:11766 TH gene TH Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, OMIM:605407;DOPA-RESPONSIVE DYSTONIA False 1 0;0;100 6.185 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DYSTONIA 6, TORSION False 1 0;0;100 6.185 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MOHR-TRANEBJAERG SYNDROME;JENSEN SYNDROME False 1 0;0;100 6.185 False ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM126B gene TMEM126B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscle Weakness and Isolated Complex I Deficiency False 1 0;0;100 6.185 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMPRSS6 gene TMPRSS6 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal IRON-REFRACTORY IRON DEFICIENCY ANEMIA False 1 0;0;100 6.185 False ENSG00000187045 ENSG00000187045 HGNC:16517 TNFRSF11B gene TNFRSF11B Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Paget disease 239000 False 1 0;100;0 6.185 False ENSG00000164761 ENSG00000164761 HGNC:11909 TNFRSF13B gene TNFRSF13B Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency, common variable, 2, OMIM:240500 16007087;16007086 False 1 0;50;50 6.185 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFSF11 gene TNFSF11 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2, OMIM:259710 False 1 0;0;100 6.185 False ENSG00000120659 ENSG00000120659 HGNC:11926 TNRC6B gene TNRC6B Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay with speech and behavioral abnormalities, OMIM:61924 29463886;32152250 False 1 0;0;100 6.185 False ENSG00000100354 ENSG00000100354 HGNC:29190 TNXB gene TNXB Expert Review Red;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome due to tenascin X deficiency 606408;Vesicoureteral reflux 8 615963 False 1 0;0;100 6.185 False ENSG00000168477 ENSG00000168477 HGNC:11976 TOP2B gene TOP2B Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296 31409799 False 1 0;0;100 6.185 False ENSG00000077097 ENSG00000077097 HGNC:11990 TPO gene TPO Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A, OMIM:274500 30662777;34220711 False 1 0;0;100 6.185 False ENSG00000115705 ENSG00000115705 HGNC:12015 TPP1 gene TPP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 False 1 0;0;100 6.185 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAPPC2 gene TRAPPC2 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females SPONDYLOEPIPHYSEAL DYSPLASIA TARDA False 1 0;0;100 6.185 False ENSG00000196459 ENSG00000196459 HGNC:23068 TREM2 gene TREM2 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193 False 1 0;0;100 6.185 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRMU gene TRMU Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile, OMIM:613070 23625533 False 1 0;0;100 6.185 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRPM1 gene TRPM1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C False 1 0;0;100 6.185 False ENSG00000134160 ENSG00000134160 HGNC:7146 TRPM4 gene TRPM4 Expert Review Red Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB, OMIM:604559 False 1 0;0;100 6.185 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM7 gene TRPM7 Expert Review Red;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500;Cardiac arrhythmia, stillbirth 39099563;39621058;35712613;35561741;31423533;32503408 False 1 0;67;33 6.185 False ENSG00000092439 ENSG00000092439 HGNC:17994 TSHB gene TSHB Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 False 1 0;0;100 6.185 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperthyroidism, nonautoimmune, OMIM:609152;Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 18655531;15163335;23295291;9360555;7800007 False 1 0;0;100 6.185 False ENSG00000165409 ENSG00000165409 HGNC:12373 TSPAN7 gene TSPAN7 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 58 False 1 0;0;100 6.185 False ENSG00000156298 ENSG00000156298 HGNC:11854 TTC19 gene TTC19 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX III DEFICIENCY False 1 0;0;100 6.185 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTI2 gene TTI2 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39, OMIM:615541;Microcephaly 32061250;31737043;23956177 False 1 0;50;50 6.185 False ENSG00000129696 ENSG00000129696 HGNC:26262 TULP3 gene TULP3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 30799240;36276950;36460032;35397207;30799239 False 1 0;0;100 6.185 False ENSG00000078246 ENSG00000078246 HGNC:12425 TUSC3 gene TUSC3 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 False 1 0;0;100 6.185 False ENSG00000104723 ENSG00000104723 HGNC:30242 TYR gene TYR Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OCULOCUTANEOUS ALBINISM TYPE 1 False 1 0;0;100 6.185 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYROBP gene TYROBP Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 False 1 0;0;100 6.185 False ENSG00000011600 ENSG00000011600 HGNC:12449 TYRP1 gene TYRP1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal OCULOCUTANEOUS ALBINISM TYPE 3 False 1 0;0;100 6.185 False ENSG00000107165 ENSG00000107165 HGNC:12450 UBA5 gene UBA5 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe Infantile-Onset Encephalopathy False 1 0;0;100 6.185 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBE2A gene UBE2A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION False 1 0;0;100 6.185 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) ANGELMAN SYNDROME False 1 0;0;100 6.185 False ENSG00000114062 ENSG00000114062 HGNC:12496 UFC1 gene UFC1 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe early-onset encephalopathy with progressive microcephaly False 1 0;0;100 6.185 False ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 DD-Gene2Phenotype;Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe early-onset encephalopathy with progressive microcephaly, 29868776 False 1 0;0;100 6.185 False ENSG00000120686 ENSG00000120686 HGNC:20597 UGT1A1 gene UGT1A1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal CRIGLER-NAJJAR SYNDROME, TYPE I False 1 0;0;100 6.185 False ENSG00000241635 ENSG00000241635 HGNC:12530 UNC45A gene UNC45A Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, OMIM:619377 29429573 False 1 0;0;100 6.185 False ENSG00000140553 ENSG00000140553 HGNC:30594 UNC80 gene UNC80 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability False 1 0;0;100 6.185 False ENSG00000144406 ENSG00000144406 HGNC:26582 UPF3B gene UPF3B Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 False 1 0;0;100 6.185 False ENSG00000125351 ENSG00000125351 HGNC:20439 UROC1 gene UROC1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal UROCANASE DEFICIENCY False 1 0;0;100 6.185 False ENSG00000159650 ENSG00000159650 HGNC:26444 USB1 gene USB1 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia False 1 0;0;100 6.185 False ENSG00000103005 ENSG00000103005 HGNC:25792 UVSSA gene UVSSA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal UV-SENSITIVE SYNDROME False 1 0;0;100 6.185 False ENSG00000163945 ENSG00000163945 HGNC:29304 VHL gene VHL Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome, OMIM:193300 False 1 0;0;100 6.185 False ENSG00000134086 ENSG00000134086 HGNC:12687 WAC gene WAC Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY;WAC syndrome False 1 0;0;100 6.185 False ENSG00000095787 ENSG00000095787 HGNC:17327 WASHC3 gene WASHC3 Expert Review Red Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal short stature, distinctive facies, and neurodevelopmental abnormalities False 1 0;0;100 6.185 False ENSG00000120860 ENSG00000120860 HGNC:24256 WDR45 gene WDR45 Expert Review Red;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) NEURODEGENERATION WITH BRAIN IRON ACCUMULATION False 1 0;0;100 6.185 False ENSG00000196998 ENSG00000196998 HGNC:28912 WISP3 gene WISP3 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Progressive pseudorheumatoid dysplasia, OMIM:208230 False 1 0;0;100 6.185 False ENSG00000112761 ENSG00000112761 HGNC:12771 XPA gene XPA Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP A False 1 0;0;100 6.185 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP C False 1 0;0;100 6.185 False ENSG00000154767 ENSG00000154767 HGNC:12816 YIPF5 gene YIPF5 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 33164986 False 1 0;0;100 6.185 False ENSG00000145817 ENSG00000145817 HGNC:24877 ZFYVE26 gene ZFYVE26 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 False 1 0;0;100 6.185 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF3 gene ZNF3 Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hydrocephaly;Facial cleft 32732226 False 1 0;0;100 6.185 False ENSG00000166526 ENSG00000166526 HGNC:13089 ZNF687 gene ZNF687 Expert Review Red;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paget disease of bone 6, OMIM:616833 26849110;29493781 False 1 0;0;100 6.185 False ENSG00000143373 ENSG00000143373 HGNC:29277 ZNF711 gene ZNF711 Expert Review Red;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED ZNF711-RELATED False 1 0;0;100 6.185 False ENSG00000147180 ENSG00000147180 HGNC:13128 ZNF750 gene ZNF750 Expert Review Red;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227 16751772 False 1 0;50;50 6.185 False ENSG00000141579 ENSG00000141579 HGNC:25843 ZNF808 gene ZNF808 Expert Review Red Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 3 37308312;37973953 False 1 0;0;100 6.185 False ENSG00000198482 ENSG00000198482 HGNC:33230 CNBP_CCTG str CNBP Expert Review Red;NHS GMS;Expert Review Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668 False 1 33;33;33 6.185 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 27 75 XYLT1_GCC str XYLT1 Expert Review Red;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 22711505;30554721 False 1 100;0;0 6.185 False ENSG00000103489 ENSG00000103489 HGNC:15516 16 17470907 17470922 GCC 20 110