Miscellaneous Metabolic Disorders

Gene: GLDC

Green List (high evidence)

GLDC (glycine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000178445
EnsemblGeneIds (GRCh37): ENSG00000178445
OMIM: 238300, Gene2Phenotype
GLDC is in 12 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported gene causing glycine encephalopathy
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycine encephalopathy MIM#605899
  • Disorders of serine, glycine or glycerate metabolism
OMIM
238300
Clinvar variants
Variants in GLDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gldc has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gldc has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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