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  2. Miscellaneous Metabolic Disorders
  3. GLDC
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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

Created: 4 Feb 2021, 4:52 a.m.

Panel version: 0.162

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

Created: 2 May 2020, 12:49 p.m.
Last Modified: 2 May 2020, 12:49 p.m.
Panel version: Imported from Mendeliome panel version 0.2686

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