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 ADAMTS3 gene ADAMTS3 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154" Hydrops fetalis;HP:0001789 30450763;28985353 False 3 100;0;0 0.328 True ENSG00000156140 ENSG00000156140 HGNC:219 ALG8 gene ALG8 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM#608104 Hydrops fetalis;HP:0001789 26066342;31420886 False 3 100;0;0 0.328 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776 Hydrops fetalis;HP:0001789 26453364;31420886 False 3 100;0;0 0.328 True ENSG00000086848 ENSG00000086848 HGNC:15672 ANGPT2 gene ANGPT2 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lymphatic malformation-10, MIM#619369;Primary lymphoedema Hydrops Hydrops fetalis;HP:0001789 32908006;34876502 False 3 100;0;0 0.328 True ENSG00000091879 ENSG00000091879 HGNC:485 ASAH1 gene ASAH1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, MIM# 228000 Hydrops fetalis;HP:0001789 26578498 False 3 100;0;0 0.328 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP1A2 gene ATP1A2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;hydrops fetalis;microcephaly;arthrogryposis;extensive cortical malformations Hydrops fetalis;HP:0001789 30690204;31608932 False 3 100;0;0 0.328 True ENSG00000018625 ENSG00000018625 HGNC:800 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, MIM# 115150 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True 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 CBL gene CBL Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Hydrops fetalis;HP:0001789 25358541;20619386;20543203;20694012 False 3 100;0;0 0.328 True 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;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Hydrops fetalis;HP:0001789 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 0.328 True ENSG00000183287 ENSG00000183287 HGNC:29426 CDAN1 gene CDAN1 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, MIM#224120 Hydrops fetalis;HP:0001789 30786798;29668551;29599085 False 3 100;0;0 0.328 True ENSG00000140326 ENSG00000140326 HGNC:1713 CELSR1 gene CELSR1 Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 9, MIM# 619319 Hydrops fetalis;HP:0001789 38272662 False 3 100;0;0 0.328 True ENSG00000075275 ENSG00000075275 HGNC:1850 CHRNA1 gene CHRNA1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRND gene CHRND Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNG gene CHRNG Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000196811 ENSG00000196811 HGNC:1967 COL2A1 gene COL2A1 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Achondrogenesis, type II or hypochondrogenesis, MIM#200610 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000139219 ENSG00000139219 HGNC:2200 CTSA gene CTSA Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, MIM# 256540 Hydrops fetalis;HP:0001789 8514852;8968752 False 3 100;0;0 0.328 True ENSG00000064601 ENSG00000064601 HGNC:9251 DHCR7 gene DHCR7 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 Hydrops fetalis;HP:0001789 14735596;10215064;9856557 False 3 100;0;0 0.328 True ENSG00000172893 ENSG00000172893 HGNC:2860 DMPK gene DMPK Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Myotonic dystrophy 1, MIM# 160900" Hydrops fetalis;HP:0001789 9134395 False 3 100;0;0 0.328 True ENSG00000104936 ENSG00000104936 HGNC:2933 DOK7 gene DOK7 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 3, MIM# 618389 Hydrops fetalis;HP:0001789 31880392;19261599;34132406 False 3 50;50;0 0.328 True ENSG00000175920 ENSG00000175920 HGNC:26594 EHBP1L1 gene EHBP1L1 Expert list;Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related Hydrops fetalis;HP:0001789 34645488;26833786 False 3 50;50;0 0.328 True ENSG00000173442 ENSG00000173442 HGNC:30682 EPHB4 gene EPHB4 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 7 (MIM#617300), AD Hydrops fetalis;HP:0001789 27400125;35178555 False 3 100;0;0 0.328 True ENSG00000196411 ENSG00000196411 HGNC:3395 FGFR3 gene FGFR3 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thanatophoric dysplasia Hydrops fetalis;HP:0001789 24075385 False 3 100;0;0 0.328 True ENSG00000068078 ENSG00000068078 HGNC:3690 FLT4 gene FLT4 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 1, MIM# 153100 Hydrops fetalis;HP:0001789 16231305;16965327 False 3 100;0;0 0.328 True ENSG00000037280 ENSG00000037280 HGNC:3767 FOXC2 gene FOXC2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema-distichiasis syndrome, MIM:153400 Hydrops fetalis;HP:0001789 20301630;2525212;21918810;25712632 False 3 100;0;0 0.328 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXP3 gene FOXP3 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Hydrops fetalis;HP:0001789 33637067;30813833;33330291 False 3 100;0;0 0.328 True ENSG00000049768 ENSG00000049768 HGNC:6106 GALNS gene GALNS Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Mucopolysaccharidosis IVA, MIM# 253000" Hydrops fetalis;HP:0001789 33082562;23137060 False 3 100;0;0 0.328 True ENSG00000141012 ENSG00000141012 HGNC:4122 GATA1 gene GATA1 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835 Hydrops fetalis;HP:0001789 10700180 False 3 100;0;0 0.328 True ENSG00000102145 ENSG00000102145 HGNC:4170 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Gaucher disease, perinatal lethal,MIM# 608013" Hydrops fetalis;HP:0001789 33897756;33082562;29854527 False 3 100;0;0 0.328 True ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLE1 gene GLE1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, MIM# 253310 Hydrops fetalis;HP:0001789 18204449;22357925 False 3 100;0;0 0.328 True ENSG00000119392 ENSG00000119392 HGNC:4315 GNPTAB gene GNPTAB Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000111670 ENSG00000111670 HGNC:29670 GPI gene GPI Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470" Hydrops fetalis;HP:0001789 29227722;3796702;469896;26509025 False 3 100;0;0 0.328 True ENSG00000105220 ENSG00000105220 HGNC:4458 GUSB gene GUSB Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220;MONDO:0009662 Hydrops fetalis;HP:0001789 30442200;34302381 False 3 100;0;0 0.328 True ENSG00000169919 ENSG00000169919 HGNC:4696 HBA1 gene HBA1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thalassemias, alpha- , MIM#604131 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thalassemia, alpha-, MIM# 604131 Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000188536 ENSG00000188536 HGNC:4824 HNRNPK gene HNRNPK Expert Review Green;Other Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Au-Kline syndrome, MIM# 616580" Hydrops fetalis;HP:0001789 False 3 100;0;0 0.328 True ENSG00000165119 ENSG00000165119 HGNC:5044 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000174775 ENSG00000174775 HGNC:5173 KLF1 gene KLF1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia Type IV, MIM#613673;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Hydrops fetalis;HP:0001789 29300242;25724378;28265383;24443441;25724378;28361594;34554218 False 3 100;0;0 0.328 True ENSG00000105610 ENSG00000105610 HGNC:6345 KMT2D gene KMT2D Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome Hydrops fetalis;HP:0001789 30293990;27568880;15690368 False 3 100;0;0 0.328 True ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000133703 ENSG00000133703 HGNC:6407 LARS2 gene LARS2 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021" Hydrops fetalis;HP:0001789 26537577;32442335 False 3 100;0;0 0.328 True ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000143815 ENSG00000143815 HGNC:6518 LIPA gene LIPA Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000107798 ENSG00000107798 HGNC:6617 LZTR1 gene LZTR1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10;Noonan syndrome 2;{Schwannomatosis-2, susceptibility to} Hydrops fetalis;HP:0001789 25795793;29469822;30368668;30481304;24362817 False 3 100;0;0 0.328 True Other ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000126934 ENSG00000126934 HGNC:6842 MDFIC gene MDFIC Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 12, MIM# 620014 Hydrops fetalis;HP:0001789 35235341 False 3 100;0;0 0.328 True ENSG00000135272 ENSG00000135272 HGNC:28870 MUSK gene MUSK Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, MIM# 208150 Hydrops fetalis;HP:0001789 31750350;25537362 False 3 100;0;0 0.328 True ENSG00000030304 ENSG00000030304 HGNC:7525 MVK gene MVK Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM#610377 Hydrops fetalis;HP:0001789 27012807;28603204;23146290 False 3 100;0;0 0.328 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYBBP1A gene MYBBP1A Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrops fetalis, MONDO:0015193, MYBBP1A-related Hydrops fetalis;HP:0001789 39191491;28425981 False 3 100;0;0 0.328 True ENSG00000132382 ENSG00000132382 HGNC:7546 NEU1 gene NEU1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXN gene NEXN Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261 Hydrops fetalis;HP:0001789 33947203;33949776;35166435 False 3 100;0;0 0.328 True ENSG00000162614 ENSG00000162614 HGNC:29557 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000141458 ENSG00000141458 HGNC:7897 NRAS gene NRAS Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000213281 ENSG00000213281 HGNC:7989 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes Unknown Hydrops fetalis;HP:0001789 False 3 0;0;0 0.328 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHGDH gene PHGDH Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neu-Laxova syndrome 1, MIM# 256520" Hydrops fetalis;HP:0001789 11895570;11494295 False 3 100;0;0 0.328 True ENSG00000092621 ENSG00000092621 HGNC:8923 PIEZO1 gene PIEZO1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Lymphatic malformation 6, MIM# 616843" Hydrops fetalis;HP:0001789 23581886;34421994;26333996 False 3 100;0;0 0.328 True ENSG00000103335 ENSG00000103335 HGNC:28993 PKLR gene PKLR Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Pyruvate Kinase deficiency, MIM# 266200" Hydrops fetalis;HP:0001789 29549173;8285758;10923218 False 3 100;0;0 0.328 True ENSG00000143627 ENSG00000143627 HGNC:9020 PKP2 gene PKP2 Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021, PKP2-related Hydrops fetalis;HP:0001789 30562116;35059364;38050058 False 3 100;0;0 0.328 True ENSG00000057294 ENSG00000057294 HGNC:9024 PMM2 gene PMM2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, MIM# 212065 Hydrops fetalis;HP:0001789 31420886;20638314;21541725;28954837 False 3 100;0;0 0.328 True ENSG00000140650 ENSG00000140650 HGNC:9115 PRF1 gene PRF1 Expert Review Green;Other Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2 AR;Lymphoma, non-Hodgkin Hydrops fetalis;HP:0001789 PMID: 19595804;26199792;30070073 False 3 100;0;0 0.328 True ENSG00000180644 ENSG00000180644 HGNC:9360 PTH1R gene PTH1R Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CHONDRODYSPLASIA, BLOMSTRAND TYPE;BOCD Hydrops fetalis;HP:0001789 3975110;9268097;8723092 False 3 100;0;0 0.328 True ENSG00000160801 ENSG00000160801 HGNC:9608 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome #163950 Hydrops fetalis;HP:0001789 33686258;33847422 False 3 100;0;0 0.328 True ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Noonan syndrome 5, MIM# 611553" Hydrops fetalis;HP:0001789 17603483;17603482;31145547;31030682;29271604;24777450 False 3 100;0;0 0.328 True 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 RAPSN gene RAPSN Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 2, MIM# 618388 Hydrops fetalis;HP:0001789 18252226;34302381;33897756;28495245 False 3 50;0;50 0.328 True ENSG00000165917 ENSG00000165917 HGNC:9863 RASA1 gene RASA1 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Capillary malformation-arteriovenous malformation 1, MIM# 608354" Hydrops fetalis;HP:0001789 26096958;36980822 False 3 50;0;50 0.328 True ENSG00000145715 ENSG00000145715 HGNC:9871 RIT1 gene RIT1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-8, MIM:#615355 Hydrops fetalis;HP:0001789 25124994;24939608;27101134;23791108;33082562 False 3 100;0;0 0.328 True ENSG00000143622 ENSG00000143622 HGNC:10023 RPL15 gene RPL15 Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 12 - MIM#615550;hydrops Hydrops fetalis;HP:0001789 20301769;29599205;23812780 False 3 100;0;0 0.328 True ENSG00000174748 ENSG00000174748 HGNC:10306 RRAS2 gene RRAS2 Expert Review;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 12 OMIM #618624 Hydrops fetalis;HP:0001789 33686258;31130282 False 3 100;0;0 0.328 True ENSG00000133818 ENSG00000133818 HGNC:17271 RYR1 gene RYR1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease, MIM# 117000;Multiple pterygium syndrome Hydrops fetalis;HP:0001789 28543167;26932181 False 3 100;0;0 0.328 True ENSG00000196218 ENSG00000196218 HGNC:10483 SCN5A gene SCN5A Expert Review;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830) Hydrops fetalis;HP:0001789 22064211;15184283;19419784 False 3 100;0;0 0.328 True ENSG00000183873 ENSG00000183873 HGNC:10593 SEC23B gene SEC23B Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Dyserythropoietic anemia, congenital, type II , MIM#224100" Hydrops fetalis;HP:0001789 29300242;20381388 False 3 100;0;0 0.328 True ENSG00000101310 ENSG00000101310 HGNC:10702 SGPL1 gene SGPL1 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Sphingosine Phosphate Lyase Insufficiency Syndrome;RENI syndrome (MIM#617575) Hydrops fetalis;HP:0001789 28165343;33074640 False 3 100;0;0 0.328 True ENSG00000166224 ENSG00000166224 HGNC:10817 SHOC2 gene SHOC2 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, MIM: #607721 Hydrops fetalis;HP:0001789 24458587;33082562;33027564 False 3 100;0;0 0.328 True ENSG00000108061 ENSG00000108061 HGNC:15454 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Sialic acid storage disorder, infantile, MIM# 269920" Hydrops fetalis;HP:0001789 34667062;10546100 False 3 100;0;0 0.328 True ENSG00000119899 ENSG00000119899 HGNC:10933 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756 Hydrops fetalis;HP:0001789 33082562;27928775 False 3 100;0;0 0.328 True ENSG00000166311 ENSG00000166311 HGNC:11120 SOS1 gene SOS1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4;#MIM:610733 Hydrops fetalis;HP:0001789 17143285;17143282;28884940;17586837 False 3 100;0;0 0.328 True 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 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 9, MIM# 616559 Hydrops fetalis;HP:0001789 25795793;32788663 False 3 100;0;0 0.328 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SOX18 gene SOX18 Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" Hydrops fetalis;HP:0001789 12740761;26631803 False 3 100;0;0 0.328 True ENSG00000203883 ENSG00000203883 HGNC:11194 SPTA1 gene SPTA1 Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis type 3 #270970;Elliptocytosis-2 #130600;pyropoikilocytosis #266140 Hydrops fetalis;HP:0001789 34132406;35483216;31333484;29594000 False 3 50;50;0 0.328 True ENSG00000163554 ENSG00000163554 HGNC:11272 TALDO1 gene TALDO1 Expert Review Green;Victorian Clinical Genetics Services Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, MIM# 606003 Hydrops fetalis;HP:0001789 35186000;26238251 False 3 100;0;0 0.328 True ENSG00000177156 ENSG00000177156 HGNC:11559 TAZ gene TAZ Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM#302060 Hydrops fetalis;HP:0001789 29476731;31598953;20812380 False 3 100;0;0 0.328 True ENSG00000102125 ENSG00000102125 HGNC:11577 THSD1 gene THSD1 Expert Review Green;Literature Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 13, MIM# 620244 Hydrops fetalis;HP:0001789 PMID: 33569873;27895300 False 3 100;0;0 0.328 True ENSG00000136114 ENSG00000136114 HGNC:17754 UROS gene UROS Expert list;Expert Review Green Hydrops fetalis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Porphyria, congenital erythropoietic, MIM# 263700" Hydrops fetalis;HP:0001789 24027798;30685241;34828434;15065102;11254675;12533808 False 3 50;0;50 0.328 True ENSG00000188690 ENSG00000188690 HGNC:12592