Miscellaneous Metabolic Disorders
Gene: GLDC
Well-established gene-disease association (see OMIM entry). Glycine encephalopathy 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 metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 4:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Well reported gene causing glycine encephalopathyCreated: 2 May 2020, 12:49 p.m. | Last Modified: 2 May 2020, 12:49 p.m.
Panel Version: 0.2686
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy (MIM#605899)
Publications
Gene: gldc has been classified as Green List (High Evidence).
Gene: gldc has been classified as Green List (High Evidence).
gene: GLDC was added gene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 27604308; 2246863; 1634607 Phenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism Review for gene: GLDC was set to GREEN gene: GLDC was marked as current diagnostic