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Inborn errors of metabolism

Gene: GCSH

Red List (low evidence)

GCSH (glycine cleavage system protein H)
EnsemblGeneIds (GRCh38): ENSG00000140905
EnsemblGeneIds (GRCh37): ENSG00000140905
OMIM: 238330, Gene2Phenotype
GCSH is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Associated with Atypical glycine encephalopathy, Infantile glycine encephalopathy and Neonatal glycine encephalopathy in Orphanet, which are also linked to the AMT and GLDC genes which are both green in this panel and for which there are multiple cases from screens of patients which did not find variants within GCLC. PMID:12402263 describes a heterozygous variant identified in a patient with transient neonatal hyperglycinemia, which was also present in his mother and brother who had no family history of the disorder. Reported with a possible G2P association with MIM 605899. Not enough evidence at this time to be promoted.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy 605899; Atypical glycine encephalopathy; Infantile glycine encephalopathy; Neonatal glycine encephalopathy; transient neonatal hyperglycinemia

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only one variant reported in one case
Created: 19 Jan 2017, 1:55 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Glycine encephalopathy
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GCSH. Source London North GLH was added to GCSH.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GCSH was added gene: GCSH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 27604308; 16450403 Phenotypes for gene: GCSH were set to Glycine encephalopathy