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 AKT3 gene AKT3 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937" Hydrops fetalis;HP:0001789 23754335 False 1 0;0;100 0.328 True ENSG00000117020 ENSG00000117020 HGNC:393 ARSA gene ARSA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Metachromatic leukodystrophy, MIM# 250100" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSE gene ARSE Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Chondrodysplasia punctata, X-linked recessive, MIM# 302950" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000157399 ENSG00000157399 HGNC:719 CALCRL gene CALCRL Expert Review Red;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 8 (MIM# 618773);hydrops fetalis Hydrops fetalis;HP:0001789 30115739 False 1 0;0;100 0.328 True ENSG00000064989 ENSG00000064989 HGNC:16709 CANT1 gene CANT1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM#251450 Hydrops fetalis;HP:0001789 21654728;20358610 False 1 0;0;100 0.328 True ENSG00000171302 ENSG00000171302 HGNC:19721 CHRNE gene CHRNE Expert Review Red;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myasthenic syndromes Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000108556 ENSG00000108556 HGNC:1966 CLCNKA gene CLCNKA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes Other Bartter syndrome, type 4b, digenic, MIM#613090 Hydrops fetalis;HP:0001789 23484775 False 1 0;0;100 0.328 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes Other Bartter syndrome, type 4b, digenic, MIM#613090 Hydrops fetalis;HP:0001789 23484775 False 1 0;0;100 0.328 True ENSG00000184908 ENSG00000184908 HGNC:2027 COG6 gene COG6 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iil, MIM#614576 Hydrops fetalis;HP:0001789 31420886 False 1 0;0;100 0.328 True ENSG00000133103 ENSG00000133103 HGNC:18621 COLQ gene COLQ Expert Review Red;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, MIM# 603034 Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000206561 ENSG00000206561 HGNC:2226 EBP gene EBP Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes Other "Chondrodysplasia punctata, X-linked dominant, MIM# 302960" Hydrops fetalis;HP:0001789 23137060 False 1 0;0;100 0.328 True ENSG00000147155 ENSG00000147155 HGNC:3133 ESCO2 gene ESCO2 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Roberts syndrome, MIM# 268300" Hydrops fetalis;HP:0001789 16547991 False 1 0;0;100 0.328 True ENSG00000171320 ENSG00000171320 HGNC:27230 FH gene FH Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fumarase deficiency, MIM# 606812" Hydrops fetalis;HP:0001789 23137060 False 1 0;0;100 0.328 True ENSG00000091483 ENSG00000091483 HGNC:3700 FLVCR2 gene FLVCR2 Expert Review Red;Other Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cystic hygroma;hydrops;hydranencephaly;arthrogryposis;Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Hydrops fetalis;HP:0001789 30712878 False 1 0;0;100 0.328 True ENSG00000119686 ENSG00000119686 HGNC:20105 FUCA1 gene FUCA1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fucosidosis, MIM# 230000" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000179163 ENSG00000179163 HGNC:4006 G6PD gene G6PD Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Hemolytic anemia, G6PD deficient (favism), MIM# 300908" Hydrops fetalis;HP:0001789 23719252;24999569 False 1 0;0;100 0.328 True ENSG00000160211 ENSG00000160211 HGNC:4057 GALC gene GALC Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Krabbe disease, MIM# 245200" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000054983 ENSG00000054983 HGNC:4115 GDF2 gene GDF2 Expert Review Red;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lymphatic dysplasia;hydrothorax;hydrops Hydrops fetalis;HP:0001789 32618121 False 1 0;0;100 0.328 True ENSG00000128802 ENSG00000263761 HGNC:4217 GLA gene GLA Expert Review Red;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM# 301500 Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000102393 ENSG00000102393 HGNC:4296 HADH gene HADH Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "LCHAD deficiency, MIM# 609016" Hydrops fetalis;HP:0001789 23137060;11111210 False 1 0;0;100 0.328 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Trifunctional protein deficiency, MIM# 609015" Hydrops fetalis;HP:0001789 26070998 False 1 0;0;100 0.328 True ENSG00000138029 ENSG00000138029 HGNC:4803 HEXA gene HEXA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Tay-Sachs disease, MIM# 272800" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000049860 ENSG00000049860 HGNC:4879 IFT122 gene IFT122 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Beemer-Langer syndrome Hydrops fetalis;HP:0001789 28370949 False 1 0;0;100 0.328 True ENSG00000163913 ENSG00000163913 HGNC:13556 ITGA9 gene ITGA9 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chylothorax Hydrops fetalis;HP:0001789 21584887 False 1 0;0;100 0.328 True ENSG00000144668 ENSG00000144668 HGNC:6145 KAT6B gene KAT6B Expert Review Red;Other Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000156650 ENSG00000156650 HGNC:17582 KCNH2 gene KCNH2 Expert Review;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome Hydrops fetalis;HP:0001789 27492745 False 1 0;0;100 0.328 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNQ1 gene KCNQ1 Expert Review;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 1, 192500 Hydrops fetalis;HP:0001789 27539165 False 1 0;0;100 0.328 True ENSG00000053918 ENSG00000053918 HGNC:6294 KDM6A gene KDM6A Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes Other "Kabuki syndrome 2, MIM# 300867" Hydrops fetalis;HP:0001789 27568880 False 1 0;0;100 0.328 True ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Expert Review Red;Other Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrolethalus;short rib polydactyly Hydrops fetalis;HP:0001789 26166481 False 1 0;100;0 0.328 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIF23 gene KIF23 Expert Review Red;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital dyserythropoietic anaemia Hydrops fetalis;HP:0001789 23570799 False 1 0;50;50 0.328 True ENSG00000137807 ENSG00000137807 HGNC:6392 LAMB2 gene LAMB2 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Pierson syndrome, MIM# 609049" Hydrops fetalis;HP:0001789 16450351 False 1 0;0;100 0.328 True ENSG00000172037 ENSG00000172037 HGNC:6487 MAN2B1 gene MAN2B1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, alpha-, types I and II, MIM# 248500" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000104774 ENSG00000104774 HGNC:6826 MGAT2 gene MGAT2 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIa , MIM#212066" Hydrops fetalis;HP:0001789 31420886 False 1 0;0;100 0.328 True ENSG00000168282 ENSG00000168282 HGNC:7045 MID1 gene MID1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Opitz GBBB syndrome, type I 300000" Hydrops fetalis;HP:0001789 3517843;24863803 False 1 0;0;100 0.328 True ENSG00000101871 ENSG00000101871 HGNC:7095 NEK1 gene NEK1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" Hydrops fetalis;HP:0001789 7491205;15605271 False 1 0;0;100 0.328 True ENSG00000137601 ENSG00000137601 HGNC:7744 NIPBL gene NIPBL Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 1, MIM# 122470" Hydrops fetalis;HP:0001789 30712880 False 1 0;0;100 0.328 True ENSG00000164190 ENSG00000164190 HGNC:28862 NPC2 gene NPC2 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Niemann-pick disease, type C2, MIM# 607625" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPR1 gene NPR1 Expert Review Red;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Genetic hypertension MONDO:0015512 Hydrops fetalis;HP:0001789 PMID: 37080586 False 1 0;0;100 0.328 True ENSG00000169418 ENSG00000169418 HGNC:7943 PIGA gene PIGA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIK3CA gene PIK3CA Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937" Hydrops fetalis;HP:0001789 23754335 False 1 0;0;100 0.328 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937" Hydrops fetalis;HP:0001789 23754335 False 1 0;0;100 0.328 True ENSG00000105647 ENSG00000105647 HGNC:8980 RPL11 gene RPL11 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7 Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 5, MIM# 612528" Hydrops fetalis;HP:0001789 20301769 False 1 0;0;100 0.328 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 6, MIM# 612561" Hydrops fetalis;HP:0001789 20301769 False 1 0;0;100 0.328 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 9, MIM# 613308" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS19 gene RPS19 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 1, MIM# 105650" Hydrops fetalis;HP:0001789 23349008 False 1 0;0;100 0.328 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-blackfan anemia 3, MIM# 610629" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 10, MIM# 613309" Hydrops fetalis;HP:0001789 False 1 0;0;100 0.328 True ENSG00000197728 ENSG00000197728 HGNC:10414 SLC22A5 gene SLC22A5 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Carnitine deficiency, systemic primary, MIM# 212140" Hydrops fetalis;HP:0001789 16010481 False 1 0;0;100 0.328 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC35D1 gene SLC35D1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Schneckenbecken dysplasia, MIM# 269250" Hydrops fetalis;HP:0001789 11200994 False 1 0;0;100 0.328 True ENSG00000116704 ENSG00000116704 HGNC:20800 SUMF1 gene SUMF1 Expert list;Expert Review Red Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Multiple sulfatase deficiency, MIM# 272200" Hydrops fetalis;HP:0001789 31497481 False 1 0;0;100 0.328 True ENSG00000144455 ENSG00000144455 HGNC:20376