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  2. Miscellaneous Metabolic Disorders
  3. GCSH
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Miscellaneous Metabolic Disorders

Gene: GCSH

Red List (low evidence)
GCSH (glycine cleavage system protein H)
EnsemblGeneIds (GRCh38): ENSG00000140905
EnsemblGeneIds (GRCh37): ENSG00000140905
OMIM: 238330, Gene2Phenotype
GCSH is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported
Sources: Literature
Created: 8 Feb 2021, 3:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism

Publications

Created: 8 Feb 2021, 3:49 a.m.

Panel version: 0.318

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Glycine encephalopathy MIM#605899
  • Disorders of serine, glycine or glycerate metabolism
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gcsh has been classified as Red List (Low Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GCSH was added gene: GCSH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 1671321; 27604308 Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism Review for gene: GCSH was set to RED