Miscellaneous Metabolic Disorders
Gene: GALT
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia MIM#230400
Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 4:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Galactosemia MIM#230400; Disorders of galactose metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Tag treatable tag was added to gene: GALT.
Gene: galt has been classified as Green List (High Evidence).
Gene: galt has been classified as Green List (High Evidence).
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