1. Panels
  2. Aminoacidopathy
  3. GLDC
STRs in panel
Prev Next
Regions in panel
Prev Next

Aminoacidopathy

Gene: GLDC

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962

Well reported gene-disease association with reported individuals present with glycine encephalopathy.
Sources: ClinGen
Created: 5 Jun 2024, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glycine encephalopathy MONDO:0011612

Publications

Created: 5 Jun 2024, 7:43 a.m.

Panel version: 1.47

History Filter Activity

7 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GLDC was added gene: GLDC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464 Phenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612 Review for gene: GLDC was set to GREEN