GALE

UDP-galactose-4-epimerase
OMIM: 606953, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GALE in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	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 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Thrombocytopenia 12, syndromic, MIM#620776
Green GALE in Mendeliome Version 1.1902	review	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 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green Tags treatable
Green GALE in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Galactose epimerase deficiency MIM#230350
Green GALE in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Galactose epimerase deficiency , MIM#230350 Tags treatable metabolic