GALE:Ensemblv90

UDP-galactose-4-epimerase
OMIM: 606953, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green GALE in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Thrombocytopenia 12, syndromic, MIM#620776
Green GALE in Bone Marrow Failure Level 2: Haematological disorders Version 1.131 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Thrombocytopenia 12, syndromic, MIM#620776
Green GALE in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Galactose epimerase deficiency MIM#230350 Thrombocytopenia 12, syndromic, MIM#620776 Tags treatable
Green GALE in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes galactose epimerase deficiency MONDO:0009257 Tags treatable
Green GALE in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.59 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green GALE in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Galactose epimerase deficiency MIM#230350
Green GALE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Galactose epimerase deficiency , MIM#230350 Tags treatable metabolic
Green GALE in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 12, syndromic, MIM#620776
Green GALE in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Thrombocytopenia 12, syndromic, MIM#620776
Green GALE in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes galactose epimerase deficiency MONDO:0009257 Tags treatable
Green GALE in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green GALE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Galactose epimerase deficiency , MIM#230350 Tags treatable metabolic