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Miscellaneous Metabolic Disorders v1.24 | GALT | Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.23 | GALT | Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.23 | GALT | Zornitza Stark Tag treatable tag was added to gene: GALT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.151 | GALT | Bryony Thompson Marked gene: GALT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.151 | GALT | Bryony Thompson Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.151 | GALT | Bryony Thompson Classified gene: GALT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.151 | GALT | Bryony Thompson Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.150 | GALT |
Bryony Thompson gene: GALT was added gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GALT were set to 27604308; 2011574 Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism Review for gene: GALT was set to GREEN gene: GALT was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism. Sources: NHS GMS |