Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS gene AARS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 25817015;28493438 False 2 0;100;0 6.185 False ENSG00000090861 ENSG00000090861 HGNC:20 AASS gene AASS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 False 2 0;100;0 6.185 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABCD4 gene ABCD4 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857 33729671 False 2 0;100;0 6.185 False ENSG00000119688 ENSG00000119688 HGNC:68 ABHD16A gene ABHD16A Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, OMIM:619735 34866177;34489854;34587489 False 2 0;100;0 6.185 False ENSG00000204427 ENSG00000204427 HGNC:13921 ACO2 gene ACO2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration;Infantile cerebellar-retinal degeneration, OMIM:614559 34056600;39891418 False 2 0;100;0 6.185 False ENSG00000100412 ENSG00000100412 HGNC:118 ADAMTS19 gene ADAMTS19 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 2, OMIM:620067 31844321;32323311 False 2 0;100;0 6.185 False ENSG00000145808 ENSG00000145808 HGNC:17111 ADAMTS9 gene ADAMTS9 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy False 2 0;100;0 6.185 False ENSG00000163638 ENSG00000163638 HGNC:13202 AIFM1 gene AIFM1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6;COWCHOCK SYNDROME False 2 0;100;0 6.185 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 32531460;33402283;21092922;24958424;30477741;30486714;26173967 False 2 0;67;33 6.185 False ENSG00000164022 ENSG00000164022 HGNC:10648 AIMP2 gene AIMP2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17, OMIM:618006 False 2 0;100;0 6.185 False ENSG00000106305 ENSG00000106305 HGNC:20609 ALG11 gene ALG11 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, OMIM:613661 30770273 False 2 0;100;0 6.185 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG13 gene ALG13 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 36, OMIM:300884 32681751 False 2 0;100;0 6.185 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALKBH8 gene ALKBH8 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 False 2 0;100;0 6.185 False ENSG00000137760 ENSG00000137760 HGNC:25189 AMOT gene AMOT Expert Review Amber Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital hydrocephalus False 2 0;100;0 6.185 False ENSG00000126016 ENSG00000126016 HGNC:17810 ANKRD17 gene ANKRD17 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multiple congenital malformations;Chopra-Amiel-Gordon syndrome, OMIM:619504 33909992 False 2 0;100;0 6.185 False ENSG00000132466 ENSG00000132466 HGNC:23575 ANKRD26 gene ANKRD26 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown THROMBOCYTOPENIA 2 False 2 0;100;0 6.185 False ENSG00000107890 ENSG00000107890 HGNC:29186 AP3B2 gene AP3B2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epileptic Encephalopathy with Optic Atrophy False 2 0;100;0 6.185 False ENSG00000103723 ENSG00000103723 HGNC:567 AP4M1 gene AP4M1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, OMIM:612936 29096665;21937992;19559397;28464862;31915823;25496299;32979048 False 2 0;100;0 6.185 False ENSG00000221838 ENSG00000221838 HGNC:574 ARF1 gene ARF1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, OMIM:618185 28868155;34353862 False 2 0;100;0 6.185 False ENSG00000143761 ENSG00000143761 HGNC:652 ARHGEF40 gene ARHGEF40 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies and developmental delay False 2 0;100;0 6.185 False ENSG00000165801 ENSG00000165801 HGNC:25516 ARV1 gene ARV1 Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 38, OMIM:617020 36307859;34296759 False 2 0;100;0 6.185 False ENSG00000173409 ENSG00000173409 HGNC:29561 ASCC3 gene ASCC3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 35047834;21937992 False 2 0;100;0 6.185 False ENSG00000112249 ENSG00000112249 HGNC:18697 ATP11C gene ATP11C Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Hemolytic anemia, congenital, X-linked, OMIM:301015 33082562 False 2 0;100;0 6.185 False ENSG00000101974 ENSG00000101974 HGNC:13554 ATP1A3 gene ATP1A3 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 99, OMIM:619606;Polymicrogyria 33880529;33762331 False 2 0;50;50 6.185 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP6V0A1 gene ATP6V0A1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Developmental and epileptic encephalopathy 104, OMIM:619970;Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 False 2 0;100;0 6.185 False ENSG00000033627 ENSG00000033627 HGNC:865 AXIN1 gene AXIN1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Craniometadiaphyseal osteosclerosis with hip dysplasia, OMIM:620558 37582359 False 2 0;100;0 6.185 False ENSG00000103126 ENSG00000103126 HGNC:903 BAIAP2 gene BAIAP2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 38149472 False 2 0;100;0 6.185 False ENSG00000175866 ENSG00000175866 HGNC:947 BANF1 gene BANF1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NESTOR-GUILLERMO PROGERIA SYNDROME False 2 0;100;0 6.185 False ENSG00000175334 ENSG00000175334 HGNC:17397 BAZ2B gene BAZ2B Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder False 2 0;100;0 6.185 False ENSG00000123636 ENSG00000123636 HGNC:963 BCAS3 gene BCAS3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, OMIM:619641 34022130 False 2 0;100;0 6.185 False ENSG00000141376 ENSG00000141376 HGNC:14347 BCL9L gene BCL9L Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy 23035047 False 2 0;100;0 6.185 False ENSG00000186174 ENSG00000186174 HGNC:23688 BHLHE22 gene BHLHE22 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complex neurodevelopmental disorder 39502664 False 2 100;0;0 6.185 False ENSG00000180828 ENSG00000180828 HGNC:11963 BICRA gene BICRA Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 12 33232675 False 2 0;100;0 6.185 False ENSG00000063169 ENSG00000063169 HGNC:4332 BLOC1S6 gene BLOC1S6 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HERMANSKY-PUDLAK SYNDROME 9 False 2 0;100;0 6.185 False ENSG00000104164 ENSG00000104164 HGNC:8549 BNIP1 gene BNIP1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, Holling type, OMIM:621345 False 2 0;100;0 6.185 False ENSG00000113734 ENSG00000113734 HGNC:1082 BOLA3 gene BOLA3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 False 2 0;100;0 6.185 False ENSG00000163170 ENSG00000163170 HGNC:24415 BUB1 gene BUB1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 30, primary, autosomal recessive, OMIM:620183 False 2 0;100;0 6.185 False ENSG00000169679 ENSG00000169679 HGNC:1148 C14orf80 gene C14orf80 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal severe growth impairment and endocrine complications 39979680 False 2 0;100;0 6.185 False ENSG00000185347 ENSG00000185347 HGNC:20127 C1GALT1C1 gene C1GALT1C1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, OMIM:301110 36599939;37216524 False 2 0;100;0 6.185 False ENSG00000171155 ENSG00000171155 HGNC:24338 CA5A gene CA5A Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY False 2 0;100;0 6.185 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNA1A gene CACNA1A Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 42, OMIM:617106 27476654 False 2 0;100;0 6.185 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1D gene CACNA1D Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474 25620733;28472301;31921405;32410215 False 2 0;100;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 ENSG00000157388 ENSG00000157388 HGNC:1391 CALCRL gene CALCRL Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 8, OMIM:618773;Lymphatic malformation 8, MONDO:0032907;Hydrops fetalis 33082562;30115739;16537897 False 2 0;50;50 6.185 False ENSG00000064989 ENSG00000064989 HGNC:16709 CAMK2A gene CAMK2A Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2B gene CAMK2B Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 54, OMIM:617799 37734707;29100089;29560374 False 2 0;100;0 6.185 False ENSG00000058404 ENSG00000058404 HGNC:1461 CAMTA1 gene CAMTA1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 38044714 False 2 0;100;0 6.185 False ENSG00000171735 ENSG00000171735 HGNC:18806 CAPN15 gene CAPN15 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318;microphthalmia HP:0000568;coloboma HP:0000589 32885237 False 2 0;100;0 6.185 False ENSG00000103326 ENSG00000103326 HGNC:11182 CAPRIN1 gene CAPRIN1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782 35979925 False 2 0;100;0 6.185 False ENSG00000135387 ENSG00000135387 HGNC:6743 CARS2 gene CARS2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy with complex movement disorder and regression False 2 0;100;0 6.185 False ENSG00000134905 ENSG00000134905 HGNC:25695 CCDC78 gene CCDC78 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES False 2 0;100;0 6.185 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCP110 gene CCP110 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy False 2 0;100;0 6.185 False ENSG00000103540 ENSG00000103540 HGNC:24342 CCT3 gene CCT3 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination 39480921 False 2 0;100;0 6.185 False ENSG00000163468 ENSG00000163468 HGNC:1616 CCT8 gene CCT8 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain malformations, intellectual disability, and seizures;CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 6.185 False ENSG00000156261 ENSG00000156261 HGNC:1623 CD40LG gene CD40LG Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM, OMIM:308230 8993019;10228294;14451053;24631270;35572607;6605368;9255191 False 2 0;100;0 6.185 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD96 gene CD96 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown C SYNDROME False 2 0;100;0 6.185 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDC40 gene CDC40 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 15, OMIM:619302 False 2 0;100;0 6.185 False ENSG00000168438 ENSG00000168438 HGNC:17350 CDH11 gene CDH11 Expert Review Amber Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Teebi hypertelorism syndrome 2, OMIM:619736;Elsahy-Waters syndrome 33811546;29271567 False 2 0;100;0 6.185 False ENSG00000140937 ENSG00000140937 HGNC:1750 CDX1 gene CDX1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anorectal malformations False 2 0;100;0 6.185 False ENSG00000113722 ENSG00000113722 HGNC:1805 CELSR3 gene CELSR3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;congenital anomaly of kidney and urinary tract, MONDO:0019719 38429302 False 2 50;50;0 6.185 False ENSG00000008300 ENSG00000008300 HGNC:3230 CFI gene CFI Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Complement factor I deficiency 39891418 False 2 0;100;0 6.185 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHAF1A gene CHAF1A Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculo-auriculo-vertebral spectrum 39333427 False 2 0;100;0 6.185 False ENSG00000167670 ENSG00000167670 HGNC:1910 CHD3 gene CHD3 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome, OMIM:618205 32483341;39050258;30397230;37761804 False 2 0;100;0 6.185 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHD8 gene CHD8 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 31980904 False 2 0;100;0 6.185 False ENSG00000100888 ENSG00000100888 HGNC:20153 CHRM3 gene CHRM3 Expert Review;Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis 10944224;22077972;31441039 False 2 0;100;0 6.185 False ENSG00000133019 ENSG00000133019 HGNC:1952 CHRNB2 gene CHRNB2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT;NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT False 2 0;100;0 6.185 False ENSG00000160716 ENSG00000160716 HGNC:1962 CITED2 gene CITED2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 8, OMIM:614433;Ventricular septal defect 2, OMIM:614431;Congenital heart disease 16287139;29536580;33706167;31515672;11694877;33439552 False 2 0;100;0 6.185 False ENSG00000164442 ENSG00000164442 HGNC:1987 CLPP gene CLPP Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, OMIM:614129 38454547;37932750;34338890;38249302 False 2 0;100;0 6.185 False ENSG00000125656 ENSG00000125656 HGNC:2084 CNKSR2 gene CNKSR2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY WITH EPILEPSY False 2 0;100;0 6.185 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNTN1 gene CNTN1 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 19026398;32779773 False 2 0;50;50 6.185 False ENSG00000018236 ENSG00000018236 HGNC:2171 COA6 gene COA6 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 22277967;25339201 False 2 0;100;0 6.185 False ENSG00000168275 ENSG00000168275 HGNC:18025 COL27A1 gene COL27A1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Steel syndrome, OMIM:615155 24986830;28276056;28322503 False 2 0;100;0 6.185 False ENSG00000196739 ENSG00000196739 HGNC:22986 COLGALT1 gene COLGALT1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 31759980;30412317;33709034 False 2 0;100;0 6.185 False ENSG00000130309 ENSG00000130309 HGNC:26182 COPB2 gene COPB2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Microcephaly 19, primary, autosomal recessive, OMIM:617800;Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 34450031;29036432 False 2 0;100;0 6.185 False ENSG00000184432 ENSG00000184432 HGNC:2232 COX14 gene COX14 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053 22243966 False 2 0;100;0 6.185 False ENSG00000178449 ENSG00000178449 HGNC:28216 CPAMD8 gene CPAMD8 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 8, OMIM:617319 32274568 False 2 0;100;0 6.185 False ENSG00000160111 ENSG00000160111 HGNC:23228 CPOX gene CPOX Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Harderoporphyria, OMIM:618892 False 2 0;100;0 6.185 False ENSG00000080819 ENSG00000080819 HGNC:2321 CRELD1 gene CRELD1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 37947183 False 2 0;100;0 6.185 False ENSG00000163703 ENSG00000163703 HGNC:14630 CSMD1 gene CSMD1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038 38816421 False 2 0;100;0 6.185 False ENSG00000183117 ENSG00000183117 HGNC:14026 CTDP1 gene CTDP1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168 14517542;20301787;24690360;2552958229174527 False 2 0;100;0 6.185 True ENSG00000060069 ENSG00000060069 HGNC:2498 CUL3 gene CUL3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autism or seizures, OMIM:619239;Pseudohypoaldosteronism, type IIE, OMIM:614496 31512373;31145527;28135719 False 2 0;100;0 6.185 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUX2 gene CUX2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental epileptic encephalopathy False 2 0;100;0 6.185 False ENSG00000111249 ENSG00000111249 HGNC:19347 CWF19L1 gene CWF19L1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127 27016154 False 2 0;100;0 6.185 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYB5R3 gene CYB5R3 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Methemoglobinemia, type II, OMIM:250800;METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 34467556 False 2 0;100;0 6.185 False ENSG00000100243 ENSG00000100243 HGNC:2873 DAND5 gene DAND5 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 13, autosomal 36316122;34215651 False 2 0;100;0 6.185 False ENSG00000179284 ENSG00000179284 HGNC:26780 DCDC2 gene DCDC2 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal, OMIM:617394 37296768;36816379;36938759;35570614;34155636 False 2 0;100;0 6.185 False ENSG00000146038 ENSG00000146038 HGNC:18141 DDR1 gene DDR1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with multiple dislocations False 2 0;100;0 6.185 False ENSG00000204580 ENSG00000204580 HGNC:2730 DDX23 gene DDX23 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic neurodevelopmental disorder False 2 0;100;0 6.185 False ENSG00000174243 ENSG00000174243 HGNC:17347 DGUOK gene DGUOK Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070;Portal hypertension, noncirrhotic, 1, OMIM:617068 22868686 False 2 0;100;0 6.185 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHDDS gene DHDDS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability False 2 0;100;0 6.185 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHPS gene DHPS Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 False 2 0;100;0 6.185 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHRS3 gene DHRS3 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis False 2 0;100;0 6.185 False ENSG00000162496 ENSG00000162496 HGNC:17693 DHTKD1 gene DHTKD1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA False 2 0;100;0 6.185 False ENSG00000181192 ENSG00000181192 HGNC:23537 DIP2C gene DIP2C Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, congenital heart defects False 2 0;100;0 6.185 False ENSG00000151240 ENSG00000151240 HGNC:29150 DLG3 gene DLG3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 90, OMIM:300850;MENTAL RETARDATION X-LINKED TYPE 90 False 2 0;50;50 6.185 False ENSG00000082458 ENSG00000082458 HGNC:2902 DLG4 gene DLG4 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 37347881 False 2 0;100;0 6.185 False ENSG00000132535 ENSG00000132535 HGNC:2903 DNAJC12 gene DNAJC12 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, Dystonia, and Intellectual Disability False 2 0;100;0 6.185 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Amber;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, OMIM:610198 17244376;22797137;16055927 False 2 0;100;0 6.185 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC21 gene DNAJC21 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3 29700810;28062395;27346687 False 2 0;100;0 6.185 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNM1 gene DNM1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY False 2 0;100;0 6.185 False ENSG00000106976 ENSG00000106976 HGNC:2972 DOCK7 gene DOCK7 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 23, OMIM:615859 30807358;24814191;30771731 False 2 0;100;0 6.185 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOHH gene DOHH Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 35858628 False 2 0;100;0 6.185 False ENSG00000129932 ENSG00000129932 HGNC:28662 DRC1 gene DRC1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, OMIM:615294 39152285;39462806;34851034 False 2 0;100;0 6.185 False ENSG00000157856 ENSG00000157856 HGNC:24245 DSG1 gene DSG1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING False 2 0;100;0 6.185 False ENSG00000134760 ENSG00000134760 HGNC:3048 DVL2 gene DVL2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, MONDO:0019978 33599851;30521570;35047859 False 2 0;100;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 ENSG00000004975 ENSG00000004975 HGNC:3086 EDN1 gene EDN1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AURICULOCONDYLAR SYNDROME;Auriculocondylar syndrome 3, OMIM:615706 False 2 0;100;0 6.185 False ENSG00000078401 ENSG00000078401 HGNC:3176 EDN3 gene EDN3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, OMIM:209880;Waardenburg syndrome, type 4B, OMIM:613265;{Hirschsprung disease, susceptibility to, 4}, OMIM:613712 9359047;27370713;11303518;10231870;8630502;30171849 False 2 0;100;0 6.185 False ENSG00000124205 ENSG00000124205 HGNC:3178 EEF1A2 gene EEF1A2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INFANTILE EPILEPTIC ENCEPHALOPATHY False 2 0;100;0 6.185 False ENSG00000101210 ENSG00000101210 HGNC:3192 EFEMP1 gene EFEMP1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type ID, OMIM:620780 33807164;17872905;22489068;32006683;31792352 False 2 0;100;0 6.185 False ENSG00000115380 ENSG00000115380 HGNC:3218 EIF3B gene EIF3B Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Single kidney;Bilateral cleft lip and palate;Tetralogy of Fallot;Asplenia False 2 0;100;0 6.185 False ENSG00000106263 ENSG00000106263 HGNC:3280 EIF3F gene EIF3F Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 67, OMIM:618295 33736665 False 2 0;100;0 6.185 False ENSG00000175390 ENSG00000175390 HGNC:3275 ELMO2 gene ELMO2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intraosseous Vascular Malformation False 2 0;100;0 6.185 False ENSG00000062598 ENSG00000062598 HGNC:17233 EMC1 gene EMC1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 29271071;26942288 False 2 0;100;0 6.185 False ENSG00000127463 ENSG00000127463 HGNC:28957 EMILIN1 gene EMILIN1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity-bone fragility syndrome, OMIM:620908 14701737;36351433 False 2 0;100;0 6.185 False ENSG00000138080 ENSG00000138080 HGNC:19880 EMX2 gene EMX2 Expert list;Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, OMIM:269160;schizencephaly, MONDO:0010011 8528262;9153481;9359037;17506092;18409201;20157829 False 2 33;67;0 6.185 False ENSG00000170370 ENSG00000170370 HGNC:3341 ENPP5 gene ENPP5 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia False 2 0;100;0 6.185 False ENSG00000112796 ENSG00000112796 HGNC:13717 ERG gene ERG Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 14 36928819 False 2 0;100;0 6.185 False ENSG00000157554 ENSG00000157554 HGNC:3446 ETV2 gene ETV2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal congenital heart defects, vertebral abnormalities and preaxial polydactyly False 2 0;100;0 6.185 False ENSG00000105672 ENSG00000105672 HGNC:3491 EXOSC1 gene EXOSC1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1F, OMIM:619304 False 2 0;100;0 6.185 False ENSG00000171311 ENSG00000171311 HGNC:17286 EXOSC5 gene EXOSC5 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576 32504085;29302074;34089229;30950035 False 2 0;100;0 6.185 False ENSG00000077348 ENSG00000077348 HGNC:24662 FAM177A1 gene FAM177A1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with white matter abnormalities and gait disturbance 38767059;25558065 False 2 0;100;0 6.185 False ENSG00000151327 ENSG00000151327 HGNC:19829 FANCM gene FANCM Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FANCM-RELATED FANCONI ANEMIA;FANCONI ANEMIA False 2 0;100;0 6.185 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBXO22 gene FBXO22 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Tayoun-Maawali syndrome 40215970 False 2 0;100;0 6.185 False ENSG00000167196 ENSG00000167196 HGNC:13593 FBXW11 gene FBXW11 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914;Neurodevelopmental, jaw, eye, and digital syndrome 31402090;40188065 False 2 0;100;0 6.185 False ENSG00000072803 ENSG00000072803 HGNC:13607 FEZF1 gene FEZF1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA False 2 0;100;0 6.185 False ENSG00000128610 ENSG00000128610 HGNC:22788 FGF16 gene FGF16 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Metacarpal 4-5 fusion, OMIM:309630 25333065;24706454;23709756 False 2 0;100;0 6.185 False ENSG00000196468 ENSG00000196468 HGNC:3672 FGF9 gene FGF9 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome 3, OMIM:612961 33174625;19589401;28730625;33140402;19219044 False 2 0;100;0 6.185 False ENSG00000102678 ENSG00000102678 HGNC:3687 FIBP gene FIBP Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome, OMIM:617107 False 2 0;100;0 6.185 False ENSG00000172500 ENSG00000172500 HGNC:3705 FKBP8 gene FKBP8 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spina bifida, HP:0002414;Vertebral segmentation defects 29261186;32969478 False 2 0;100;0 6.185 False ENSG00000105701 ENSG00000105701 HGNC:3724 FLII gene FLII Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2J 37561591;32870709 False 2 0;100;0 6.185 False ENSG00000177731 ENSG00000177731 HGNC:3750 FMN2 gene FMN2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000155816 ENSG00000155816 HGNC:14074 FOXL2 gene FOXL2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME False 2 0;100;0 6.185 False ENSG00000183770 ENSG00000183770 HGNC:1092 FOXP2 gene FOXP2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Speech-language disorder-1, OMIM:602081;Structural abnormalities of basal ganglia 28976722 False 2 0;100;0 6.185 False ENSG00000128573 ENSG00000128573 HGNC:13875 FRRS1L gene FRRS1L Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy with continuous spike-and-wave during sleep False 2 0;100;0 6.185 False ENSG00000260230 ENSG00000260230 HGNC:1362 FRYL gene FRYL Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, OMIM:621049;Pan-Chung-Bellen syndrome, MONDO:0975953 38479391 False 2 0;100;0 6.185 False ENSG00000075539 ENSG00000075539 HGNC:29127 FSD1L gene FSD1L Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 6.185 False ENSG00000106701 ENSG00000106701 HGNC:13753 FUCA1 gene FUCA1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FUCOSIDOSIS False 2 0;100;0 6.185 False ENSG00000179163 ENSG00000179163 HGNC:4006 FZD6 gene FZD6 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nail disorder, nonsyndromic congenital, 1, OMIM:161050 33082562;26036949;28425981 False 2 0;67;33 6.185 False ENSG00000164930 ENSG00000164930 HGNC:4044 G6PD gene G6PD Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hemolytic anemia, G6PD deficient (favism), OMIM:300908;Glucose-6-phosphate dehydrogenase deficiency 39041728;33082562 False 2 0;67;33 6.185 False ENSG00000160211 ENSG00000160211 HGNC:4057 GABRA1 gene GABRA1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY;JUVENILE MYOCLONIC EPILEPSY False 2 0;100;0 6.185 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB2 gene GABRB2 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 92, OMIM:617829 33325057;27789573;29100083 False 2 0;100;0 6.185 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRG2 gene GABRG2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 False 2 0;100;0 6.185 False ENSG00000113327 ENSG00000113327 HGNC:4087 GATA5 gene GATA5 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 5;Congenital heart defects, multiple types, 5, OMIM:617912 40076735;33082562 False 2 0;100;0 6.185 False ENSG00000130700 ENSG00000130700 HGNC:15802 GDF2 gene GDF2 Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 32618121 False 2 0;50;50 6.185 False ENSG00000128802 ENSG00000263761 HGNC:4217 GFM2 gene GFM2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397 29075935;26016410 False 2 0;100;0 6.185 False ENSG00000164347 ENSG00000164347 HGNC:29682 GLMN gene GLMN Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomulovenous malformations, OMIM:138000 33082562;23801931 False 2 0;50;50 6.185 False ENSG00000174842 ENSG00000174842 HGNC:14373 GM2A gene GM2A Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GM2-GANGLIOSIDOSIS TYPE AB False 2 0;100;0 6.185 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNA11 gene GNA11 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalciuric hypercalcemia, type II, OMIM:145981;Hypocalcemia, autosomal dominant 2, OMIM:615361 27438697 False 2 0;100;0 6.185 False ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital vascular tumours 38917801 False 2 0;100;0 6.185 False ENSG00000156049 ENSG00000156049 HGNC:4382 GNB5 gene GNB5 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sinus Bradycardia and Cognitive Disability False 2 0;100;0 6.185 False ENSG00000069966 ENSG00000069966 HGNC:4401 GNPNAT1 gene GNPNAT1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Talipes equinovarus;Rhizomelic dysplasia, Ain-Naz type 39945447 False 2 0;100;0 6.185 False ENSG00000100522 ENSG00000100522 HGNC:19980 GNS gene GNS Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 False 2 25;75;0 6.185 False ENSG00000135677 ENSG00000135677 HGNC:4422 GPC4 gene GPC4 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Keipert syndrome, OMIM:301026 9001804;21567928;30982611;17726694;12605449;4708024;18541962 False 2 0;100;0 6.185 False ENSG00000076716 ENSG00000076716 HGNC:4452 GRHL2 gene GRHL2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME False 2 0;100;0 6.185 False ENSG00000083307 ENSG00000083307 HGNC:2799 GRIN2D gene GRIN2D Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers False 2 0;100;0 6.185 False ENSG00000105464 ENSG00000105464 HGNC:4588 GSPT2 gene GSPT2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females XL INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2E2 gene GTF2E2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal DNA Repair-Proficient Trichothiodystrophy False 2 0;100;0 6.185 False ENSG00000197265 ENSG00000197265 HGNC:4651 GTPBP1 gene GTPBP1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888 38118446 False 2 0;100;0 6.185 False ENSG00000100226 ENSG00000100226 HGNC:4669 HDAC2 gene HDAC2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 2 0;100;0 6.185 False ENSG00000196591 ENSG00000196591 HGNC:4853 HECTD1 gene HECTD1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39879987;38451291;37165897 False 2 0;100;0 6.185 False ENSG00000092148 ENSG00000092148 HGNC:20157 HERC1 gene HERC1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011 28323226;26138117;27108999;26153217 False 2 0;100;0 6.185 False ENSG00000103657 ENSG00000103657 HGNC:4867 HEY2 gene HEY2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 2 0;100;0 6.185 False ENSG00000135547 ENSG00000135547 HGNC:4881 HGSNAT gene HGSNAT Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3C False 2 0;100;0 6.185 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIRA gene HIRA Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complex neurodevelopmental disorder 33417013;38511226 False 2 0;100;0 6.185 False ENSG00000100084 ENSG00000100084 HGNC:4916 HIST1H4C gene HIST1H4C Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 28920961;35202563 False 2 0;100;0 6.185 False ENSG00000197061 ENSG00000197061 HGNC:4787 HOXB1 gene HOXB1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FACIAL PARESIS, HEREDITARY CONGENITAL, 3 False 2 0;100;0 6.185 False ENSG00000120094 ENSG00000120094 HGNC:5111 HPD gene HPD Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal TYROSINEMIA TYPE 3;HAWKINSINURIA False 2 0;100;0 6.185 False ENSG00000158104 ENSG00000158104 HGNC:5147 IGFBP7 gene IGFBP7 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS False 2 0;100;0 6.185 False ENSG00000163453 ENSG00000163453 HGNC:5476 IKZF1 gene IKZF1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13, OMIM:616873 33082562 False 2 0;100;0 6.185 False ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF2 gene IKZF2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233;Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 False 2 0;100;0 6.185 False ENSG00000030419 ENSG00000030419 HGNC:13177 INPP5K gene INPP5K Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 28190456;33193651;28940338;28190459;31630891 False 2 0;100;0 6.185 False ENSG00000132376 ENSG00000132376 HGNC:33882 INTS13 gene INTS13 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal orofaciodigital syndrome, MONDO:0015375 36229431 False 2 0;100;0 6.185 False ENSG00000064102 ENSG00000064102 HGNC:20174 IQCE gene IQCE Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A7 OMIM:617642 28488682;31549751 False 2 0;100;0 6.185 False ENSG00000106012 ENSG00000106012 HGNC:29171 JPH1 gene JPH1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital myopathy-25 39209426 False 2 0;100;0 6.185 False ENSG00000104369 ENSG00000104369 HGNC:14201 KAT5 gene KAT5 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103 32822602 False 2 0;100;0 6.185 False ENSG00000172977 ENSG00000172977 HGNC:5275 KBTBD2 gene KBTBD2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39313616 False 2 0;100;0 6.185 False ENSG00000170852 ENSG00000170852 HGNC:21751 KCNB1 gene KCNB1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26;Developmental and epileptic encephalopathy 26 36257979;39237446;31513310 False 2 0;67;33 6.185 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNH1 gene KCNH1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 1, OMIM:135500 33811134 False 2 0;100;0 6.185 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH2 gene KCNH2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1, OMIM:609620;Long QT syndrome 2, OMIM:613688 36973673;38094730;39698424 False 2 0;100;0 6.185 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNN3 gene KCNN3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 3, OMIM:618658 31155282;33594261 False 2 0;100;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 ENSG00000143603 ENSG00000143603 HGNC:6292 KCNN4 gene KCNN4 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dehydrated hereditary stomatocytosis 2, OMIM:616689 False 2 0;100;0 6.185 False ENSG00000104783 ENSG00000104783 HGNC:6293 KCNT1 gene KCNT1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 14, OMIM:614959 36307859 False 2 0;67;33 6.185 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107147 ENSG00000107147 HGNC:18865 KDM1A gene KDM1A Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728;Cleft palate, psychomotor retardation, and distinctive facial features 27094131;24838796;26656649 False 2 0;100;0 6.185 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDM5A gene KDM5A Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820 33350388;21937992 False 2 0;100;0 6.185 False ENSG00000073614 ENSG00000073614 HGNC:9886 KDM6B gene KDM6B Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stolerman neurodevelopmental syndrome, OMIM:618505 31124270;37196654 False 2 0;100;0 6.185 False ENSG00000132510 ENSG00000132510 HGNC:29012 KDR gene KDR Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemangioma, capillary infantile, somatic, OMIM:602089 28991257;34113005;30232381 False 2 0;100;0 6.185 False ENSG00000128052 ENSG00000128052 HGNC:6307 KIAA0825 gene KIAA0825 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A10, OMIM:618498 30982135;32147526;33776623 False 2 0;100;0 6.185 False ENSG00000185261 ENSG00000185261 HGNC:28532 KIF21B gene KIF21B Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay;Neurodevelopmental disorder, MONDO:0700092;Intellectual disability;Abnormality of brain morphology;Microcephaly 32415109 False 2 0;100;0 6.185 False ENSG00000116852 ENSG00000116852 HGNC:29442 KMT2E gene KMT2E DD-Gene2Phenotype;Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted O'Donnell-Luria-Rodan syndrome;INTELLECTUAL DISABILITY;O'Donnell-Luria-Rodan syndrome, 618512 40186013 False 2 0;67;33 6.185 False ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 41, OMIM:615637;macrocephaly-developmental delay syndrome, MONDO:0014289 39083632 False 2 0;100;0 6.185 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRT74 gene KRT74 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 False 2 0;100;0 6.185 False ENSG00000170484 ENSG00000170484 HGNC:28929 LDB3 gene LDB3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MYOPATHY MYOFIBRILLAR TYPE 4;LEFT VENTRICULAR NON-COMPACTION TYPE 3;Dilated cardiomyopathy;CARDIOMYOPATHY DILATED TYPE 1C 17394203 False 2 0;50;50 6.185 False ENSG00000122367 ENSG00000122367 HGNC:15710 LIAS gene LIAS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation False 2 0;100;0 6.185 False ENSG00000121897 ENSG00000121897 HGNC:16429 LINC01578 gene LINC01578 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 False 2 0;100;0 6.185 False ENSG00000272888 ENSG00000272888 HGNC:48626 LINS1 gene LINS1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION;Intellectual developmental disorder, autosomal recessive 27, OMIM:614340 34450347;32499722;39138116;32802957;38563234;28181389;31922598 False 2 0;100;0 6.185 False ENSG00000140471 ENSG00000140471 HGNC:30922 LIPT1 gene LIPT1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. False 2 0;100;0 6.185 False ENSG00000144182 ENSG00000144182 HGNC:29569 LRIG2 gene LRIG2 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2, OMIM:615112 30885509;27855655;23313374 False 2 0;100;0 6.185 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRRC8C gene LRRC8C Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TIMES syndrome 39623139 False 2 0;100;0 6.185 False ENSG00000171488 ENSG00000171488 HGNC:25075 LRRK1 gene LRRK1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteosclerotic metaphyseal dysplasia, OMIM:615198 32119750;27829680;27055475;31571209 False 2 0;100;0 6.185 False ENSG00000154237 ENSG00000154237 HGNC:18608 LSM11 gene LSM11 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Aicardi-Goutieres syndrome 8, OMIM:619486 33230297 False 2 0;100;0 6.185 False ENSG00000155858 ENSG00000155858 HGNC:30860 MAL gene MAL Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Leukodystrophy, hypomyelinating, 28 35217805 False 2 0;100;0 6.185 False Other ENSG00000172005 ENSG00000172005 HGNC:6817 MAMLD1 gene MAMLD1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypospadias 2, OMIM:300758 26815876;31555317;32690052 False 2 0;100;0 6.185 False ENSG00000013619 ENSG00000013619 HGNC:2568 MAN1B1 gene MAN1B1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION False 2 0;100;0 6.185 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B2 gene MAN2B2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency 35637269;31775018;38622837 False 2 0;100;0 6.185 False ENSG00000013288 ENSG00000013288 HGNC:29623 MANBA gene MANBA Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LYSOSOMAL BETA-MANNOSIDOSIS 33249554 False 2 0;100;0 6.185 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAP1B gene MAP1B Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;Periventricular nodular heterotopia 9, OMIM:618918 33772511;30150678;31317654;30214071 False 2 0;100;0 6.185 False ENSG00000131711 ENSG00000131711 HGNC:6836 MAT1A gene MAT1A Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal METHIONINE ADENOSYLTRANSFERASE DEFICIENCY False 2 0;100;0 6.185 False ENSG00000151224 ENSG00000151224 HGNC:6903 MBOAT7 gene MBOAT7 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 57, OMIM:617188;Intellectual Disability Accompanied by Epilepsy and Autistic Features 36672789;38088234;32645526;33335874;38407511;32744787;34979703;31852446;37628684 False 2 0;100;0 6.185 False ENSG00000125505 ENSG00000125505 HGNC:15505 MBTPS1 gene MBTPS1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392 32857899;32420688;30046013 False 2 0;100;0 6.185 False ENSG00000140943 ENSG00000140943 HGNC:15456 MDH2 gene MDH2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Early-Onset Severe Encephalopathy False 2 0;100;0 6.185 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Childhood-Onset Dystonia and Optic Atrophy False 2 0;100;0 6.185 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED17 gene MED17 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 33756211;30345598 False 2 0;100;0 6.185 False ENSG00000042429 ENSG00000042429 HGNC:2375 MGAT2 gene MGAT2 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, OMIM:212066 33082562 False 2 0;50;50 6.185 False ENSG00000168282 ENSG00000168282 HGNC:7045 MIR17HG gene MIR17HG Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEINGOLD SYNDROME 36588757;30672094;26360630;33818875 False 2 0;100;0 6.185 False ENSG00000215417 ENSG00000215417 HGNC:23564 MITF gene MITF Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COMMAD syndrome, OMIM:617306 27889061;32541011 False 2 0;100;0 6.185 False ENSG00000187098 ENSG00000187098 HGNC:7105 MLH1 gene MLH1 Expert Review Amber;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 1, OMIM:276300;Mismatch repair cancer syndrome 276300 False 2 0;50;50 6.185 False ENSG00000076242 ENSG00000076242 HGNC:7127 MMP15 gene MMP15 Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cholestasis, MONDO:0001751;congenital heart disease, MONDO:0005453 33875846;34988996 False 2 0;100;0 6.185 False ENSG00000102996 ENSG00000102996 HGNC:7161 MMP2 gene MMP2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600 16542393 False 2 0;100;0 6.185 False ENSG00000087245 ENSG00000087245 HGNC:7166 MMP9 gene MMP9 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Metaphyseal anadysplasia 2, OMIM:613073 False 2 0;100;0 6.185 False ENSG00000100985 ENSG00000100985 HGNC:7176 MPC1 gene MPC1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 34873722;31145700 False 2 0;100;0 6.185 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPC2 gene MPC2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency 36417180 False 2 0;100;0 6.185 False ENSG00000143158 ENSG00000143158 HGNC:24515 MPL gene MPL Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Amegakaryocytic thrombocytopenia, congenital, 1 39763161 False 2 0;100;0 6.185 False ENSG00000117400 ENSG00000117400 HGNC:7217 MPZ gene MPZ Expert Review Amber;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomyelinating neuropathy, congenital, 2, OMIM:618184 False 2 0;100;0 6.185 False ENSG00000158887 ENSG00000158887 HGNC:7225 MRPS14 gene MRPS14 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 100;0;0 6.185 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review;Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 28749478 False 2 0;100;0 6.185 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS34 gene MRPS34 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Leigh Syndrome with Instability of the Small Mitoribosomal Subunit False 2 0;100;0 6.185 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSH2 gene MSH2 Expert Review Amber;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome;Mismatch repair cancer syndrome 2, OMIM:619096;Mismatch repair cancer syndrome 276300 False 2 0;50;50 6.185 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Amber;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3, OMIM:619097;Mismatch repair cancer syndrome 276300 False 2 0;50;50 6.185 False ENSG00000116062 ENSG00000116062 HGNC:7329 MTPAP gene MTPAP Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, OMIM:613672 31779033 False 2 0;100;0 6.185 False ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TE gene MT-TE Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MITOCHONDRIAL Mitochondrial tRNA deficiency 33082562;17161635 False 2 0;100;0 6.185 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TL1 gene MT-TL1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MITOCHONDRIAL Mitochondrial tRNA deficiency 33082562 False 2 0;100;0 6.185 False ENSG00000209082 ENSG00000209082 HGNC:7490 MVK gene MVK Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377 27012807;16722536 False 2 0;100;0 6.185 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYBPC3 gene MYBPC3 Expert Review;Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127;16679492;28749478;17937428 False 2 0;100;0 6.185 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYL2 gene MYL2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 10;Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 39831482 False 2 0;100;0 6.185 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYLK gene MYLK Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210 28602422 False 2 0;100;0 6.185 False ENSG00000065534 ENSG00000065534 HGNC:7590 MYSM1 gene MYSM1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, OMIM:618116 33082562 False 2 0;100;0 6.185 False ENSG00000162601 ENSG00000162601 HGNC:29401 NAA15 gene NAA15 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 31127942;33557580 False 2 0;100;0 6.185 False ENSG00000164134 ENSG00000164134 HGNC:30782 NADK2 gene NADK2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 27940755 False 2 0;100;0 6.185 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAGLU gene NAGLU Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis type IIIB (Sanfilippo B) 40066675 False 2 0;100;0 6.185 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAXE gene NAXE Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Lethal Neurometabolic Disorder of Early Childhood False 2 0;100;0 6.185 False ENSG00000163382 ENSG00000163382 HGNC:18453 NCAPD2 gene NCAPD2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 21, primary, autosomal recessive, OMIM:617983 27737959;28097321;31056748 False 2 0;100;0 6.185 False ENSG00000010292 ENSG00000010292 HGNC:24305 NDUFA10 gene NDUFA10 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME DUP False 2 0;100;0 6.185 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME False 2 0;100;0 6.185 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFC2 gene NDUFC2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170 32969598 False 2 0;100;0 6.185 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFV2 gene NDUFV2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 26008862 False 2 0;100;0 6.185 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEUROD1 gene NEUROD1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Maturity-onset diabetes of the young 6 26773576;10545951;29521454;26669242;19609565;20573748 False 2 0;100;0 6.185 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEXMIF gene NEXMIF Expert Review Amber;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) KIAA2022;Intellectual disability and epilepsy False 2 0;100;0 6.185 False ENSG00000050030 ENSG00000050030 HGNC:29433 NHP2 gene NHP2 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 18523010 False 2 0;100;0 6.185 False ENSG00000145912 ENSG00000145912 HGNC:14377 NID1 gene NID1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus with or without seizures;Dandy-Walker malformation and occipital cephalocele 30773799;12480912;25558065;23674478 False 2 0;100;0 6.185 False ENSG00000116962 ENSG00000116962 HGNC:7821 NKX6-2 gene NKX6-2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Progressive Spastic Ataxia and Hypomyelination False 2 0;100;0 6.185 False ENSG00000148826 ENSG00000148826 HGNC:19321 NMNAT1 gene NMNAT1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis;LEBER CONGENITAL AMAUROSIS 39891418 False 2 0;67;33 6.185 False ENSG00000173614 ENSG00000173614 HGNC:17877 NMNAT2 gene NMNAT2 Expert Review Amber;Research Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal hydrops fetalis;cystic hygroma;bilateral hypoplastic lungs;hydrocephalus;hypoplastic cerebellum;severely reduced skeletal muscle mass or absence;flexion contractures of all extremities;micrognathia;cleft palate;hydropic placenta 23082226;31136762;31132363;33442022 False 2 50;50;0 6.185 False ENSG00000157064 ENSG00000157064 HGNC:16789 NOTCH3 gene NOTCH3 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lateral meningocele syndrome, OMIM:130720 False 2 0;100;0 6.185 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPNT gene NPNT Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal agenesis, MONDO:0018470, NPNT-related 34049960;35246978;17537792 False 2 0;100;0 6.185 False ENSG00000168743 ENSG00000168743 HGNC:27405 NTRK2 gene NTRK2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability False 2 0;100;0 6.185 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUDCD2 gene NUDCD2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal multiple malformation syndrome with cholestasis and renal failure False 2 0;100;0 6.185 False ENSG00000170584 ENSG00000170584 HGNC:30535 NUP214 gene NUP214 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 31178128;3965093;38179855;39650934;30758658 False 2 0;100;0 6.185 False ENSG00000126883 ENSG00000126883 HGNC:8064 NUP62 gene NUP62 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INFANTILE STRIATONIGRAL DEGENERATION False 2 0;100;0 6.185 False ENSG00000213024 ENSG00000213024 HGNC:8066 NUP88 gene NUP88 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 4, OMIM:618393;Fetal akinesia deformation sequence 4, MONDO:0100104 30543681;33060286 False 2 0;67;33 6.185 False ENSG00000108559 ENSG00000108559 HGNC:8067 NUS1 gene NUS1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability False 2 0;100;0 6.185 False ENSG00000153989 ENSG00000153989 HGNC:21042 ORAI1 gene ORAI1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, tubular aggregate, 2, OMIM:615883 31448844 False 2 0;100;0 6.185 False ENSG00000182500 ENSG00000276045 HGNC:25896 PAM16 gene PAM16 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320 27354339;24786642 False 2 0;100;0 6.185 False ENSG00000217930 ENSG00000217930 HGNC:29679 PARP6 gene PARP6 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly;Intellectual disability;Epilepsy 34067418 False 2 0;100;0 6.185 False ENSG00000137817 ENSG00000137817 HGNC:26921 PATJ gene PATJ Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ciliopathy False 2 0;100;0 6.185 False ENSG00000132849 ENSG00000132849 HGNC:28881 PCLO gene PCLO Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, OMIM:608027 False 2 0;100;0 6.185 False ENSG00000186472 ENSG00000186472 HGNC:13406 PDCD6IP gene PDCD6IP Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, OMIM:620047 False 2 0;100;0 6.185 False ENSG00000170248 ENSG00000170248 HGNC:8766 PDE10A gene PDE10A Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Childhood-Onset Chorea with Bilateral Striatal Lesions False 2 0;100;0 6.185 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDE12 gene PDE12 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Mitochondrial disease, MONDO:0044970 39567835 False 2 0;100;0 6.185 False ENSG00000174840 ENSG00000174840 HGNC:25386 PDE6D gene PDE6D Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM:615665 30423442;24166846 False 2 0;100;0 6.185 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDE6H gene PDE6H Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RETINAL CONE DYSTROPHY 3 PDE6H;ACHROMATOPSIA False 2 0;100;0 6.185 False ENSG00000139053 ENSG00000139053 HGNC:8790 PDSS1 gene PDSS1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 2 False 2 0;100;0 6.185 False ENSG00000148459 ENSG00000148459 HGNC:17759 PHEX gene PHEX Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant, OMIM:307800 9106524;16055933;19219621;29791829 False 2 0;100;0 6.185 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHLDB1 gene PHLDB1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXIII, OMIM:620639 36543534 False 2 0;100;0 6.185 False ENSG00000019144 ENSG00000019144 HGNC:23697 PIGC gene PIGC Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16 32707268;27694521 False 2 0;100;0 6.185 False ENSG00000135845 ENSG00000135845 HGNC:8960 PIGM gene PIGM Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency 25293775;16767100 False 2 0;100;0 6.185 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGQ gene PIGQ Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 4 24463883;25558065;31148362;32588908 False 2 0;100;0 6.185 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGY gene PIGY Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809;Glycosylphosphatidylinositol deficiency 26293662;38790248 False 2 0;100;0 6.185 False ENSG00000255072 ENSG00000255072 HGNC:28213 PISD gene PISD Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Liberfarb syndrome, OMIM:618889 30488656;3561949;30858161;31263216 False 2 0;100;0 6.185 False ENSG00000241878 ENSG00000241878 HGNC:8999 PKP2 gene PKP2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Severe cardiomyopathy with left ventricular noncompaction 33082562 False 2 0;100;0 6.185 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLCB1 gene PLCB1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 False 2 0;100;0 6.185 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLOD3 gene PLOD3 Expert Review;Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Contractures;IUGR;Lysyl hydroxylase 3 deficiency, OMIM:612394;BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394 18834968;30237576;33743358 False 2 0;100;0 6.185 False ENSG00000106397 ENSG00000106397 HGNC:9083 PLVAP gene PLVAP Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 31215290;29875123;29661969;26207260 False 2 0;100;0 6.185 False ENSG00000130300 ENSG00000130300 HGNC:13635 PLXNB2 gene PLXNB2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta, hearing loss and intellectual disability False 2 0;100;0 6.185 False ENSG00000196576 ENSG00000196576 HGNC:9104 PMS2 gene PMS2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME;Mismatch repair cancer syndrome 4, OMIM:619101 False 2 0;50;50 6.185 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLA1 gene POLA1 Expert Review Amber Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females Van Esch-O'Driscoll syndrome, OMIM:301030 False 2 0;100;0 6.185 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 23770608 False 2 0;50;50 6.185 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLG gene POLG Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459;Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 29574624;33579567;8368248 False 2 0;50;50 6.185 False ENSG00000140521 ENSG00000140521 HGNC:9179 POU3F3 gene POU3F3 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Fisher syndrome 37593446;31303265 False 2 0;100;0 6.185 False ENSG00000198914 ENSG00000198914 HGNC:9216 PPP1R13L gene PPP1R13L Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 32666529;28864777 False 2 0;50;50 6.185 False ENSG00000104881 ENSG00000104881 HGNC:18838 PREPL gene PREPL Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HYPOTONIA-CYSTINURIA SYNDROME False 2 0;100;0 6.185 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRKG2 gene PRKG2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 4, OMIM:619636;Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638 33106379;34680883;34782440 False 2 0;100;0 6.185 False ENSG00000138669 ENSG00000138669 HGNC:9416 PROC gene PROC Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Thrombophilia 3 due to protein C deficiency, autosomal recessive 39763161 False 2 0;100;0 6.185 False ENSG00000115718 ENSG00000115718 HGNC:9451 PSMC3 gene PSMC3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 37256937 False 2 0;100;0 6.185 False ENSG00000165916 ENSG00000165916 HGNC:9549 PTH gene PTH Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal FAMILIAL ISOLATED HYPOPARATHYROIDISM False 2 0;100;0 6.185 False ENSG00000152266 ENSG00000152266 HGNC:9606 PURA gene PURA Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted INTELLECTUAL DISABILITY;Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158;Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties 39521787 False 2 0;25;75 6.185 False ENSG00000185129 ENSG00000185129 HGNC:9701 PYCR2 gene PYCR2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME False 2 0;100;0 6.185 False ENSG00000143811 ENSG00000143811 HGNC:30262 PYROXD1 gene PYROXD1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization False 2 0;100;0 6.185 False ENSG00000121350 ENSG00000121350 HGNC:26162 QARS gene QARS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 24656866;25432320;25041233;32042906;25471517;28620870 False 2 0;100;0 6.185 False ENSG00000172053 ENSG00000172053 HGNC:9751 RAD51C gene RAD51C Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, OMIM:613390 29278735;20400963 False 2 0;100;0 6.185 False ENSG00000108384 ENSG00000108384 HGNC:9820 RASA2 gene RASA2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome False 2 0;100;0 6.185 False ENSG00000155903 ENSG00000155903 HGNC:9872 RBFOX2 gene RBFOX2 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453;hypoplastic left heart syndrome, MONDO:0004933 27670201;25205790;37165897;26785492;27485310;35137168 False 2 0;100;0 6.185 False ENSG00000100320 ENSG00000100320 HGNC:9906 RHOA gene RHOA Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 False 2 0;100;0 6.185 False ENSG00000067560 ENSG00000067560 HGNC:667 RIN2 gene RIN2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075 20954239;30769224;20424861;24449201;19631308 False 2 0;100;0 6.185 False ENSG00000132669 ENSG00000132669 HGNC:18750 RINT1 gene RINT1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 3 OMIM:618641 31204009 False 2 0;100;0 6.185 False ENSG00000135249 ENSG00000135249 HGNC:21876 RNF13 gene RNF13 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 73, OMIM:618379 False 2 0;100;0 6.185 False ENSG00000082996 ENSG00000082996 HGNC:10057 RNPC3 gene RNPC3 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 False 2 0;100;0 6.185 False ENSG00000185946 ENSG00000185946 HGNC:18666 RNU2-2P gene RNU2-2P Expert Review Amber Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Developmental and epileptic encephalopathy 119, OMIM:621304 40950445;40909831;40442284;40210679 False 2 0;100;0 6.185 False ENSG00000222328 ENSG00000222328 HGNC:10152 RNU5A-1 gene RNU5A-1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;Neurodevelopmental disorder, MONDO:0700092 40379786 False 2 0;100;0 6.185 False ENSG00000199568 ENSG00000199568 HGNC:10211 RORA gene RORA Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000069667 ENSG00000069667 HGNC:10258 RPS23 gene RPS23 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly, hearing loss, and dysmorphic features False 2 0;100;0 6.185 False ENSG00000186468 ENSG00000186468 HGNC:10410 RREB1 gene RREB1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060;Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay 40418122 False 2 0;100;0 6.185 False ENSG00000124782 ENSG00000124782 HGNC:10449 SACS gene SACS Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE False 2 0;100;0 6.185 False ENSG00000151835 ENSG00000151835 HGNC:10519 SCNN1B gene SCNN1B Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, OMIM:264350 8589714 False 2 0;100;0 6.185 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCYL1 gene SCYL1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia False 2 0;100;0 6.185 False ENSG00000142186 ENSG00000142186 HGNC:14372 SECISBP2 gene SECISBP2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal THYROID HORMONE METABOLISM, ABNORMAL False 2 0;100;0 6.185 False ENSG00000187742 ENSG00000187742 HGNC:30972 SEL1L gene SEL1L Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 37943617;37943610 False 2 0;100;0 6.185 False ENSG00000071537 ENSG00000071537 HGNC:10717 SEPHS1 gene SEPHS1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ververi-Brady syndrome 2, OMIM:621325 False 2 0;100;0 6.185 False ENSG00000086475 ENSG00000086475 HGNC:19685 SET gene SET Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SET syndrome False 2 0;100;0 6.185 False ENSG00000119335 ENSG00000119335 HGNC:10760 SF3B2 gene SF3B2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia, OMIM:164210 34344887;37555391 False 2 0;100;0 6.185 False ENSG00000087365 ENSG00000087365 HGNC:10769 SFXN4 gene SFXN4 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, OMIM:615578 24119684 False 2 0;100;0 6.185 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGSH gene SGSH Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3A False 2 0;100;0 6.185 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH3BP2 gene SH3BP2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism, OMIM:118400 False 2 0;100;0 6.185 False ENSG00000087266 ENSG00000087266 HGNC:10825 SHANK1 gene SHANK1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM False 2 0;100;0 6.185 False ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUSCEPTIBILITY TO AUTISM TYPE 17 False 2 0;100;0 6.185 False ENSG00000162105 ENSG00000162105 HGNC:14295 SHROOM3 gene SHROOM3 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURAL TUBE DEFECT 32621286 False 2 0;100;0 6.185 False ENSG00000138771 ENSG00000138771 HGNC:30422 SIAH1 gene SIAH1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Buratti-Harel syndrome, OMIM:619314 32430360 False 2 0;100;0 6.185 False ENSG00000196470 ENSG00000196470 HGNC:10857 SIRT6 gene SIRT6 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Fetal anomaly, HP:0034057;Neurodevelopmental disorder, MONDO:0700092 30135584;29555651 False 2 50;50;0 6.185 False ENSG00000077463 ENSG00000077463 HGNC:14934 SLC13A1 gene SLC13A1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal short stature, scoliosis, and skeletal dysplasia False 2 0;100;0 6.185 False ENSG00000081800 ENSG00000081800 HGNC:10916 SLC19A1 gene SLC19A1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 114, folate-responsive 32276275;36745868;11266438;36517554 False 2 0;100;0 6.185 False ENSG00000173638 ENSG00000173638 HGNC:10937 SLC1A2 gene SLC1A2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY False 2 0;100;0 6.185 False ENSG00000110436 ENSG00000110436 HGNC:10940 SLC22A5 gene SLC22A5 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 33082562;10545605;11261427 False 2 0;50;50 6.185 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182 23393310;24687295;25614306 False 2 0;100;0 6.185 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A22 gene SLC25A22 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 False 2 0;100;0 6.185 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A26 gene SLC25A26 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28, OMIM:616794 26522469;33082562 False 2 0;50;50 6.185 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC30A5 gene SLC30A5 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, hydrops fetalis, or cystic hygroma 33547425;12095919;39790720 False 2 0;100;0 6.185 False ENSG00000145740 ENSG00000145740 HGNC:19089 SLC30A7 gene SLC30A7 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ziegler-Huang syndrome, OMIM:620501 36821639 False 2 0;100;0 6.185 False ENSG00000162695 ENSG00000162695 HGNC:19306 SLC34A3 gene SLC34A3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, OMIM:241530 False 2 0;100;0 6.185 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35A1 gene SLC35A1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, OMIM:603585 28856833;30115659 False 2 0;100;0 6.185 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC45A1 gene SLC45A1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy False 2 0;100;0 6.185 False ENSG00000162426 ENSG00000162426 HGNC:17939 SLC4A1 gene SLC4A1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ovalocytosis, SA type, OMIM:166900 33082562;24652967 False 2 0;50;50 6.185 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC6A17 gene SLC6A17 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 False 2 0;100;0 6.185 False ENSG00000197106 ENSG00000197106 HGNC:31399 SMAD5 gene SMAD5 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease False 2 0;100;0 6.185 False ENSG00000113658 ENSG00000113658 HGNC:6771 SMPD1 gene SMPD1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type B, OMIM:607616;Niemann-Pick disease, type A, OMIM:257200 False 2 33;67;0 6.185 False ENSG00000166311 ENSG00000166311 HGNC:11120 SNAP29 gene SNAP29 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528;CEDNIK syndrome, MONDO:0012290 15968592;21073448;28388629;29051910;30793783 False 2 0;100;0 6.185 False ENSG00000099940 ENSG00000099940 HGNC:11133 SNAPC4 gene SNAPC4 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 40186013 False 2 0;100;0 6.185 False ENSG00000165684 ENSG00000165684 HGNC:11137 SNUPN gene SNUPN Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793 38413582;38366623 False 2 0;100;0 6.185 False ENSG00000169371 ENSG00000169371 HGNC:14245 SOX5 gene SOX5 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000134532 ENSG00000134532 HGNC:11201 SPIN4 gene SPIN4 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Lui-Jee-Baron syndrome, OMIM:301114 36927955 False 2 0;100;0 6.185 False ENSG00000186767 ENSG00000186767 HGNC:27040 SPOP gene SPOP Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nabais Sa-de Vries syndrome, type 1, OMIM:618828;Nabais Sa-de Vries syndrome, type 2, OMIM:618829 False 2 0;100;0 6.185 False ENSG00000121067 ENSG00000121067 HGNC:11254 SPRED2 gene SPRED2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 14, OMIM:619745 34626534;36394128 False 2 0;100;0 6.185 False ENSG00000198369 ENSG00000198369 HGNC:17722 SPTAN1 gene SPTAN1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 5, OMIM:613477;developmental and epileptic encephalopathy, 5, MONDO:0013277 False 2 0;100;0 6.185 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475 False 2 0;100;0 6.185 False ENSG00000115306 ENSG00000115306 HGNC:11275 SRP54 gene SRP54 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic neutropenia with Shwachman-Diamond-like features;Neutropenia, severe congenital, 8, autosomal dominant 28972538;29914977 False 2 0;100;0 6.185 False ENSG00000100883 ENSG00000100883 HGNC:11301 ST3GAL3 gene ST3GAL3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 27604308;21907012;23252400;31584066;17120046;25529582 False 2 0;100;0 6.185 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Infantile epilepsy 28976722 False 2 0;100;0 6.185 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAT3 gene STAT3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952;Hyper-IgE recurrent infection syndrome, OMIM:147060 31771449;34366294;30617622 False 2 0;100;0 6.185 False ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY False 2 0;100;0 6.185 False ENSG00000173757 ENSG00000173757 HGNC:11367 STIM1 gene STIM1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, tubular aggregate, OMIM:160565;Immunodeficiency 10, OMIM:612783;Stormorken syndrome, OMIM:185070 20876309;31448844 False 2 0;100;0 6.185 False ENSG00000167323 ENSG00000167323 HGNC:11386 STX11 gene STX11 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552 False 2 0;100;0 6.185 False ENSG00000135604 ENSG00000135604 HGNC:11429 STX1B gene STX1B Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 False 2 0;100;0 6.185 False ENSG00000099365 ENSG00000099365 HGNC:18539 SUCLA2 gene SUCLA2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17287286 False 2 0;100;0 6.185 False ENSG00000136143 ENSG00000136143 HGNC:11448 SYN1 gene SYN1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS False 2 0;100;0 6.185 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYT2 gene SYT2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461;Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 30533528;25192047;32250532;32776697 False 2 0;100;0 6.185 False ENSG00000143858 ENSG00000143858 HGNC:11510 SZT2 gene SZT2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM False 2 0;100;0 6.185 False ENSG00000198198 ENSG00000198198 HGNC:29040 TACO1 gene TACO1 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY False 2 0;100;0 6.185 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAF13 gene TAF13 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 60, OMIM:617432;Autosomal-Recessive Intellectual Disability and Microcephaly False 2 0;100;0 6.185 False ENSG00000197780 ENSG00000197780 HGNC:11546 TBC1D1 gene TBC1D1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26572137 False 2 0;100;0 6.185 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBX22 gene TBX22 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Abruzzo-Erickson syndrome, OMIM:302905;Cleft palate with ankyloglossia, OMIM:303400 22784330;14729838;17868388;11559848;12374769 False 2 0;100;0 6.185 True ENSG00000122145 ENSG00000122145 HGNC:11600 TCF20 gene TCF20 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with variable intellectual impairment and behavioral abnormalities 618430;TCF20 syndrome;Developmental delay with variable intellectual impairment and behavioral abnormalities 30819258;40066675 False 2 0;100;0 6.185 False ENSG00000100207 ENSG00000100207 HGNC:11631 TECPR2 gene TECPR2 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPARESIS False 2 0;100;0 6.185 False ENSG00000196663 ENSG00000196663 HGNC:19957 TEK gene TEK Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, OMIM:600195;VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL False 2 0;50;50 6.185 False ENSG00000120156 ENSG00000120156 HGNC:11724 TKT gene TKT Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Short Stature, Developmental Delay, and Congenital Heart Defects False 2 0;100;0 6.185 False ENSG00000163931 ENSG00000163931 HGNC:11834 TLK2 gene TLK2 Expert Review Amber;NHS GMS 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 57, OMIM:618050 34821460;31558842;29861108 False 2 0;100;0 6.185 False ENSG00000146872 ENSG00000146872 HGNC:11842 TLL1 gene TLL1 Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 6, OMIM:613087 18830233;30538173;27418595;10331975;31570783 False 2 20;80;0 6.185 False ENSG00000038295 ENSG00000038295 HGNC:11843 TMEM263 gene TMEM263 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal skeletal dysplasia False 2 0;100;0 6.185 False ENSG00000151135 ENSG00000151135 HGNC:28281 TMEM65 gene TMEM65 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;100;0 6.185 False ENSG00000164983 ENSG00000164983 HGNC:25203 TMPRSS7 gene TMPRSS7 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder False 2 0;100;0 6.185 False ENSG00000176040 ENSG00000176040 HGNC:30846 TNFRSF11A gene TNFRSF11A Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7, OMIM:612301 18606301;32048120 False 2 0;100;0 6.185 False ENSG00000141655 ENSG00000141655 HGNC:11908 TOMM7 gene TOMM7 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601 36282599;36299998 False 2 0;100;0 6.185 False ENSG00000196683 ENSG00000196683 HGNC:21648 TPM1 gene TPM1 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9 33553264 False 2 0;100;0 6.185 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRAPPC11 gene TRAPPC11 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 27862579;23830518;26322222;29855340;30105108;27707803;26912795;28484880 False 2 0;100;0 6.185 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRIM32 gene TRIM32 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H;BARDET-BIEDL SYNDROME TYPE 11 16606853;30823891 False 2 0;100;0 6.185 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP13 gene TRIP13 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mosaic Variegated Aneuploidy and Wilms Tumour False 2 0;100;0 6.185 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRMT10C gene TRMT10C Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies False 2 0;100;0 6.185 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRNT1 gene TRNT1 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084 29055896;33082562 False 2 0;100;0 6.185 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPV3 gene TRPV3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OLMSTED SYNDROME False 2 0;100;0 6.185 False ENSG00000167723 ENSG00000167723 HGNC:18084 TTC25 gene TTC25 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35, OMIM:617092 33746037;34215651;33715250;31765523;27486780 False 2 0;100;0 6.185 False ENSG00000204815 ENSG00000204815 HGNC:25280 TUBA8 gene TUBA8 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA;Cortical dysplasia, complex, with other brain malformations 8, 613180 19896110;31481326;28388629 False 2 50;0;50 6.185 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUFM gene TUFM Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, OMIM:610678 26741492;17160893 False 2 0;100;0 6.185 False ENSG00000178952 ENSG00000178952 HGNC:12420 TXN2 gene TXN2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811 26626369 False 2 0;100;0 6.185 False ENSG00000100348 ENSG00000100348 HGNC:17772 UBTF gene UBTF Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Childhood-Onset Neurodegeneration False 2 0;100;0 6.185 False ENSG00000108312 ENSG00000108312 HGNC:12511 UNC50 gene UNC50 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 29016857;40219868;33820833 False 2 0;100;0 6.185 False ENSG00000115446 ENSG00000115446 HGNC:16046 UQCC2 gene UQCC2 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 2 0;100;0 6.185 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 False 2 0;100;0 6.185 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED False 2 0;100;0 6.185 False ENSG00000164405 ENSG00000164405 HGNC:29594 USP27X gene USP27X Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY False 2 0;100;0 6.185 False ENSG00000242013 ENSG00000273820 HGNC:13486 VARS2 gene VARS2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, OMIM:615917 33937156;29314548;29478218 False 2 0;100;0 6.185 False ENSG00000137411 ENSG00000137411 HGNC:21642 VDR gene VDR Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal RICKETS VITAMIN D-DEPENDENT TYPE 2A False 2 0;100;0 6.185 False ENSG00000111424 ENSG00000111424 HGNC:12679 WARS2 gene WARS2 Expert Review Amber Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 30920170;28905505;35074316;29783990 False 2 0;100;0 6.185 False ENSG00000116874 ENSG00000116874 HGNC:12730 WDR11 gene WDR11 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal KALLMANN SYNDROME;Intellectual developmental disorder, autosomal recessive 78, OMIM:620237 False 2 0;50;50 6.185 False ENSG00000120008 ENSG00000120008 HGNC:13831 WNT3 gene WNT3 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal TETRA-AMELIA SYNDROME 14872406;16283889;18837045 False 2 0;100;0 6.185 True ENSG00000108379 ENSG00000108379 HGNC:12782 WNT4 gene WNT4 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal SERKAL SYNDROME;MULLERIAN APLASIA AND HYPERANDROGENISM False 2 0;100;0 6.185 False ENSG00000162552 ENSG00000162552 HGNC:12783 WNT9B gene WNT9B Expert Review Amber;Literature;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia 34145744 False 2 0;100;0 6.185 False ENSG00000158955 ENSG00000158955 HGNC:12779 XPNPEP3 gene XPNPEP3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159 32660933;20179356 False 2 0;100;0 6.185 False ENSG00000196236 ENSG00000196236 HGNC:28052 YAP1 gene YAP1 Expert Review Amber;NHS GMS;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 24462371;28801591;27267789 False 2 0;100;0 6.185 False ENSG00000137693 ENSG00000137693 HGNC:16262 YIF1B gene YIF1B Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, OMIM:619125 26077767;32006098 False 2 0;100;0 6.185 False ENSG00000167645 ENSG00000167645 HGNC:30511 YWHAE gene YWHAE Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder False 2 0;100;0 6.185 False ENSG00000108953 ENSG00000108953 HGNC:12851 YWHAG gene YWHAG Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-Onset Epilepsy False 2 0;100;0 6.185 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB24 gene ZBTB24 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069 21596365;21906047;32061411;29023266;32865561;22786748;23739126;28128455 False 2 0;100;0 6.185 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZDHHC9 gene ZDHHC9 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED;Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799 False 2 0;50;50 6.185 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZFPM2 gene ZFPM2 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diaphragmatic hernia 3, OMIM:610187;Tetralogy of Fallot, OMIM:187500 10892744;14517948;16103912;17568391;21919901;24702427 False 2 0;100;0 6.185 False ENSG00000169946 ENSG00000169946 HGNC:16700 ZMYND11 gene ZMYND11 Expert Review Amber;PAGE DD-Gene2Phenotype Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 30;INTELLECTUAL DISABILITY 39521787 False 2 0;100;0 6.185 False ENSG00000015171 ENSG00000015171 HGNC:16966 ZMYND8 gene ZMYND8 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related 35916866;32530565 False 2 0;100;0 6.185 False ENSG00000101040 ENSG00000101040 HGNC:9397 ZNF423 gene ZNF423 Expert Review Amber;NHS GMS;PAGE Additional Gene List Fetal anomalies Fetal (including NIPD) BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephronophthisis 14 614844;Joubert syndrome 19 614844 39071699;33531950;22863007;32925911 False 2 0;100;0 6.185 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF865 gene ZNF865 Expert Review Amber;Literature Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40936200 False 2 100;0;0 6.185 False ENSG00000261221 ENSG00000261221 HGNC:38705 ZNHIT3 gene ZNHIT3 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, OMIM:260565;PEHO syndrome 39252897;28335020;31048081 False 2 0;67;33 6.185 False ENSG00000108278 ENSG00000273611 HGNC:12309 ZNRF3 gene ZNRF3 Expert Review Amber Fetal anomalies Fetal (including NIPD) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complex neurodevelopmental disorder 39168120 False 2 0;100;0 6.185 False ENSG00000183579 ENSG00000183579 HGNC:18126 ZSCAN10 gene ZSCAN10 Expert Review Amber;NHS GMS Fetal anomalies Fetal (including NIPD) BIALLELIC, autosomal or pseudoautosomal Otofacial neurodevelopmental syndrome, OMIM:620910 38386308 False 2 0;100;0 6.185 False ENSG00000130182 ENSG00000130182 HGNC:12997