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 AHCY gene AHCY Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal non-immune hydrops;Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752;S-adenosylhomocysteine hydrolase deficiency;AHCY deficiency 23137060;20852937;30121674 False 3 50;50;0 1.95 False ENSG00000101444 ENSG00000101444 HGNC:343 ALG8 gene ALG8 Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM#608104 26066342;31420886 False 3 100;0;0 1.95 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALPK3 gene ALPK3 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nonimmune hydrops fetalis 33082562 False 3 100;0;0 1.95 False ENSG00000136383 ENSG00000136383 HGNC:17574 ASAH1 gene ASAH1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal disseminated lipogranulomatosis (Farber disease); NIHF; nonimmune hydrops fetalis 9128814; 8650144 False 3 0;0;0 1.95 False ENSG00000104763 ENSG00000104763 HGNC:735 BRAF gene BRAF Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD Syndrome;Noonan Syndrome;Cardiofaciocutaneous Syndrome;LEOPARD syndrome 3;Cardio-facio-cutaneous syndrome 19206169;21396583 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CANT1 gene CANT1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nonimmune hydrops fetalis PMID: 33082562 False 3 100;0;0 1.95 False ENSG00000171302 ENSG00000171302 HGNC:19721 CBL gene CBL Eligibility statement prior genetic testing;Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563;NSLL;Noonan syndrome-like disorder associated with JMML;Fetal hydrops (in some patients) 25358541 False 3 100;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CCBE1 gene CCBE1 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510;generalised lymphatic dysplasia;fetal hydrops 24086631;12794699 False 3 100;0;0 1.95 False ENSG00000183287 ENSG00000183287 HGNC:29426 CDAN1 gene CDAN1 Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 30786798;29668551;29599085 False 3 100;0;0 1.95 False ENSG00000140326 ENSG00000140326 HGNC:1713 CTSA gene CTSA Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, 256540 7759227;19466716;8968752 False 3 100;0;0 1.95 False ENSG00000064601 ENSG00000064601 HGNC:9251 EPHB4 gene EPHB4 Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 7, OMIM:617300 2990564;27400125 False 3 100;0;0 1.95 False ENSG00000196411 ENSG00000196411 HGNC:3395 FLT4 gene FLT4 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema, hereditary, IA, 153100;Hereditary lymphoedema type 1a;fetal hydrops 16231305;16965327 False 3 100;0;0 1.95 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome, 153400;fetal hydrops 25252123; 21918810; 11078474 False 3 100;0;0 1.95 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXP3 gene FOXP3 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790;IPEX;X-linked syndrome of immunodysregulation, polyendocrinopathy, and enteropath;fetal hydrops;Absent skeletal Muscle 26387632;26395338 False 3 100;0;0 1.95 False ENSG00000049768 ENSG00000049768 HGNC:6106 GALNS gene GALNS Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVA;MUCOPOLYSACCHARIDOSIS TYPE 4A; Morquio disease type A 23137060; 3130620; 15305357 False 3 100;0;0 1.95 False ENSG00000141012 ENSG00000141012 HGNC:4122 GATA1 gene GATA1 Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835;Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083 10700180;33082562;20301538;30914438;29949202;35580337 False 3 100;0;0 1.95 False ENSG00000102145 ENSG00000102145 HGNC:4170 GBA gene GBA Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Gaucher disease;Gaucher disease, type I, 230800;Gaucher disease, type II, 230900;Gaucher disease, type III, 231000;Gaucher disease, type IIIC, 231005;Gaucher disease, perinatal lethal, 608013 15305357; 6504764 False 3 0;0;0 1.95 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Fetal hydrops (in perinatal or congenital neuromuscular forms) 10449659;10384399;27393412;23137060 False 3 100;0;0 1.95 False Other - please provide details in the comments ENSG00000114480 ENSG00000114480 HGNC:4180 GLA gene GLA Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500; Fabry disease, cardiac variant, 301500;Fabry Disease False 3 0;0;0 1.95 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, 230500;GM1-gangliosidosis, type II, 230600;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis type IVB (Morquio), 253010;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVB;MUCOPOLYSACCHARIDOSIS TYPE 4B 8950724 False 3 100;0;0 1.95 False ENSG00000170266 ENSG00000170266 HGNC:4298 GNPTAB gene GNPTAB Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis II alpha/beta;Mucolipidosis III alpha/beta; I-cell disease 16116615;16200072;16630736; 15305357 False 3 0;0;0 1.95 False ENSG00000111670 ENSG00000111670 HGNC:29670 GUSB gene GUSB Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, 253220;MPS VII (Sly syndrome); Hydrops fetalis 27393412;25305402;24284886 False 3 100;0;0 1.95 False ENSG00000169919 ENSG00000169919 HGNC:4696 HBA1 gene HBA1 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thalassemias, alpha-, OMIM:604131;Fatal hydrops fetalis;Hb Bart syndrome 26732098;980019;15712323;23794144 False 3 100;0;0 1.95 False Other - please provide details in the comments ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thalassemias, alpha-, OMIM:604131;Fatal hydrops fetalis;Hb Bart syndrome 9029003;27862048;11722414;27686733;26757782 False 3 100;0;0 1.95 False Other - please provide details in the comments ENSG00000188536 ENSG00000188536 HGNC:4824 HRAS gene HRAS Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome 16170316;16969868;16443854;21396583 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 KLF1 gene KLF1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type IV, OMIM:613673;Hydrops Fetalis 28361594;21055716;25724378;26903544 False 3 0;0;0 1.95 False ENSG00000105610 ENSG00000105610 HGNC:6345 KMT2D gene KMT2D Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 30293990;27568880;15690368 False 3 100;0;0 1.95 False ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3;Noonan syndrome;Cardiofaciocutaneous syndrome 2;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome PMID: 21396583 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LARS2 gene LARS2 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 26537577;32442335 False 3 67;33;0 1.95 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia, 215140;hydrops-ectopic calcification-moth-eaten skeletal dysplasia 3377005;12210303;8213919 False 3 100;0;0 1.95 False ENSG00000143815 ENSG00000143815 HGNC:6518 LIPA gene LIPA Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Wolman disease, 278000; Lysosomal Acid Lipase Deficiency 12666227 False 3 0;0;0 1.95 False ENSG00000107798 ENSG00000107798 HGNC:6617 LZTR1 gene LZTR1 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10, 616564 25795793;29469822 False 3 0;0;0 1.95 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;LEOPARD syndrome;?Noonan syndrome PMID: 21396583;23321623 (publication referring to Noonan syndrome association). False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4;Cardio-Facio-Cutaneous syndrome type 4;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome PMID: 21396583;23379592 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MDFIC gene MDFIC Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nonimmune hydrops fetalis, HP:0001790;Lymphatic malformation 12, OMIM:620014;lymphatic malformation 12, MONDO:0031043 35235341;39386015 False 3 100;0;0 1.95 False ENSG00000135272 ENSG00000135272 HGNC:28870 NEU1 gene NEU1 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550;fetal hydrops;Hydrops fetalis (type II, congenital) 15908988;23433491;11702224 False 3 100;0;0 1.95 False ENSG00000204386 ENSG00000204386 HGNC:7758 NPC1 gene NPC1 Eligibility statement prior genetic testing;Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type C; NPC1 23137060;2375336;2589877;2334227;23597521 False 3 0;0;0 1.95 False ENSG00000141458 ENSG00000141458 HGNC:7897 NRAS gene NRAS Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome 6;Cardio-Facio-cutanenous syndrome;CFC Syndrome PMID: 19966803;19775298 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 PEX1 gene PEX1 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger; peroxisome biogenesis disorder 1A, 214100 False 3 0;0;0 1.95 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger, peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871 False 3 0;0;0 1.95 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, 614920 False 3 0;0;0 1.95 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3B, 266510; Peroxisome biogenesis disorder 3A (Zellweger), 614859 False 3 0;0;0 1.95 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger; peroxisome biogenesis disorder 11A, 614883; Peroxisome biogenesis disorder 11B, 614885 False 3 0;0;0 1.95 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger, peroxisome biogenesis disorder 13A; Peroxisome biogenesis disorder 13A (Zellweger), 614887 False 3 0;0;0 1.95 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A, (Zellweger), 614876 False 3 0;0;0 1.95 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger, peroxisome biogenesis disorder 12A; Peroxisome biogenesis disorder 12A (Zellweger), 614886 False 3 0;0;0 1.95 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), 614866 False 3 0;0;0 1.95 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872 False 3 0;0;0 1.95 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Zellweger, peroxisome biogenesis disorder 10A; Peroxisome biogenesis disorder 10A (Zellweger); 614882 20033294 False 3 0;0;0 1.95 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2B, 202370; Peroxisome biogenesis disorder 2A (Zellweger) , 214110 False 3 0;0;0 1.95 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 20033294;23137060;29220678 False 3 0;0;0 1.95 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, 614879 False 3 0;0;0 1.95 False ENSG00000112357 ENSG00000112357 HGNC:8860 PIEZO1 gene PIEZO1 Expert Review Green;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380;Lymphatic malformation 6, OMIM:616843;Congenital lymphatic dysplasia with hydrops and/or lymphoedema 26333996;26387913 False 3 100;0;0 1.95 False ENSG00000103335 ENSG00000103335 HGNC:28993 PKLR gene PKLR Expert list;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, OMIM:266200 29549173;8285758;10923218 False 3 100;0;0 1.95 False ENSG00000143627 ENSG00000143627 HGNC:9020 PMM2 gene PMM2 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, 212065;nonimmune hydrops fetalis;CDG1A;CDG 1a 20638314;15645285;17158594;23430905;23137060 False 3 100;0;0 1.95 False ENSG00000140650 ENSG00000140650 HGNC:9115 PTPN11 gene PTPN11 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome;LEOPARD syndrome 1;Noonan syndrome;Noonan syndrome 1 PMID: 17603483;11704759;12529711;12634870;15384080;15240615;16263833;17497712;18678287 False 3 0;0;0 1.95 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome 5;LEOPARD syndrome;LEOPARD syndrome 2 PMID: 17603483;17603482 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132155 ENSG00000132155 HGNC:9829 RASA1 gene RASA1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 1, OMIM:608354;capillary malformation-arteriovenous malformation 1, MONDO:0020783 36980822;33608416;24038909 False 3 100;0;0 1.95 False Other ENSG00000145715 ENSG00000145715 HGNC:9871 RIT1 gene RIT1 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8;Noonan syndrome type 8 PMID: 23791108;25124994;24939608 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143622 ENSG00000143622 HGNC:10023 SGPL1 gene SGPL1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 100;0;0 1.95 False ENSG00000166224 ENSG00000166224 HGNC:10817 SHOC2 gene SHOC2 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair PMID: 19684605;22528146;23918763 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108061 ENSG00000108061 HGNC:15454 SLC17A5 gene SLC17A5 Expert Review Green;Literature;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, 269920; ISSD; Hydrops fetalis; Infantile sialic acid storage disease 8559759; 10546100 False 3 100;0;0 1.95 False ENSG00000119899 ENSG00000119899 HGNC:10933 SMPD1 gene SMPD1 Eligibility statement prior genetic testing;Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200 15305357 False 3 0;0;0 1.95 False ENSG00000166311 ENSG00000166311 HGNC:11120 SOS1 gene SOS1 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome 4 PMID: 19438935;17143285;17143282;17586837 False 3 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Eligibility statement prior genetic testing;Expert Review Green Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 9, 616559 25795793;26173643 False 3 0;0;0 1.95 False Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 TALDO1 gene TALDO1 Expert Review Green;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, 606003 23137060;17095351;25388407;21119539 False 3 0;0;0 1.95 False ENSG00000177156 ENSG00000177156 HGNC:11559 ALG9 gene ALG9 Expert list;Expert Review Amber Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type II, MIM#608776 26453364;31420886 False 2 100;0;0 1.95 False ENSG00000086848 ENSG00000086848 HGNC:15672 ANGPT2 gene ANGPT2 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 10 OMIM:619369;lymphatic malformation 10 MONDO:0023662 32908006;34876502 False 2 100;0;0 1.95 False ENSG00000091879 ENSG00000091879 HGNC:485 ATP1A2 gene ATP1A2 Expert list;Expert Review Amber Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal hydrops fetalis;microcephaly;arthrogryposis;extensive cortical malformations 30690204 False 2 0;0;0 1.95 False ENSG00000018625 ENSG00000018625 HGNC:800 CDC42 gene CDC42 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonimmune hydrops fetalis 33082562;29335451;26708094 False 2 50;50;0 1.95 False ENSG00000070831 ENSG00000070831 HGNC:1736 EHBP1L1 gene EHBP1L1 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369 34645488;26833786;https://dmdd.org.uk/mutants/Ehbp1l1 False 2 100;0;0 1.95 False ENSG00000173442 ENSG00000173442 HGNC:30682 FZD6 gene FZD6 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nail disorder, nonsyndromic congenital, 1, OMIM:161050 33082562;26036949;28425981 False 2 50;50;0 1.95 False ENSG00000164930 ENSG00000164930 HGNC:4044 G6PD gene G6PD Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nonimmune hydrops fetalis 33082562;23719252 False 2 50;50;0 1.95 False ENSG00000160211 ENSG00000160211 HGNC:4057 IDUA gene IDUA Expert Review Amber;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, 607014; Hurler syndrome, MPS I 7985044 False 2 0;0;0 1.95 False ENSG00000127415 ENSG00000127415 HGNC:5391 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perinatal lethal cardiomyopathy;cardiomyopathy, MONDO:0004994 33547425;12095919 False 2 50;50;0 1.95 False ENSG00000145740 ENSG00000145740 HGNC:19089 ALG1 gene ALG1 Expert Review Red;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, 608540; Hydrops fetalis, nonimmune 9762608;14973778;31420886 False 1 0;50;50 1.95 False ENSG00000033011 ENSG00000033011 HGNC:18294 DHCR7 gene DHCR7 Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400; SLOS 23137060; 10215064 False 1 100;0;0 1.95 False ENSG00000172893 ENSG00000172893 HGNC:2860 DMPK gene DMPK Expert Review Red;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes Other Myotonic dystrophy 1, OMIM:160900 8140064; 1550167 False 1 100;0;0 1.95 False Other - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 EBP gene EBP Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant, 302960; Conradi Huenermann: Chondrodysplasia punctata 23137060; 6408138 False 1 0;0;0 1.95 False ENSG00000147155 ENSG00000147155 HGNC:3133 FH gene FH Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, 606812; Citric-acid cycle defect 23137060; 1557269; 9635293 False 1 0;0;0 1.95 False ENSG00000091483 ENSG00000091483 HGNC:3700 GLE1 gene GLE1 Expert Review Red;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, 253310;LCCS1;MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE;Arthrogryposis, lethal, with anterior horn cell disease, 611890 3993672;3344776;7966188;16892327 False 1 0;100;0 1.95 False ENSG00000119392 ENSG00000119392 HGNC:4315 HADHA gene HADHA Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, 609016 23137060; 11111210 False 1 0;0;0 1.95 False ENSG00000084754 ENSG00000084754 HGNC:4801 HBZ gene HBZ Expert Review Red;Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal HEMOGLOBIN H HYDROPS FETALIS SYNDROME 9029003 False 1 0;100;0 1.95 False ENSG00000130656 ENSG00000130656 HGNC:4835 PSAT1 gene PSAT1 Expert list;Expert Review Red Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neu-Laxova syndrome 2, MIM# 616038" 30838783;27475004 False 1 0;100;0 1.95 False ENSG00000135069 ENSG00000135069 HGNC:19129 SUMF1 gene SUMF1 Other Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, 272200 25305402 False 1 0;0;0 1.95 False ENSG00000144455 ENSG00000144455 HGNC:20376 UROS gene UROS Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic, 263700; Congenital erythropoietic porphyria; Gunther's disease 23137060; 12533808 False 1 0;0;0 1.95 False ENSG00000188690 ENSG00000188690 HGNC:12592 DMPK_CTG str DMPK NHS GMS;Expert Review Red;Expert list Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 1 100;0;0 1.95 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50