Miscellaneous Metabolic Disorders
Gene: GCDH
Well-established gene-disease association (see OMIM entry). Glutaric acidemia type I is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 4:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I MIM#231670; Organic acidurias
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag treatable tag was added to gene: GCDH.
Gene: gcdh has been classified as Green List (High Evidence).
Gene: gcdh has been classified as Green List (High Evidence).
gene: GCDH was added gene: GCDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 27604308; 8541831; 8900227 Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670; Organic acidurias Review for gene: GCDH was set to GREEN gene: GCDH was marked as current diagnostic