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 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 1.64 False ENSG00000086848 ENSG00000086848 HGNC:15672 ANGPT2 gene ANGPT2 Expert Review Amber;Literature Fetal hydrops Fetal disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphatic malformation 10 OMIM:619369;lymphatic malformation 10 MONDO:0023662 32908006;34876502 False 2 100;0;0 1.64 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 1.64 False ENSG00000018625 ENSG00000018625 HGNC:800 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 1.64 False ENSG00000173442 ENSG00000173442 HGNC:30682 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 1.64 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 0;100;0 1.64 False ENSG00000145740 ENSG00000145740 HGNC:19089