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  3. GCSH
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Aminoacidopathy

Gene: GCSH

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Strong by ClinGen Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:004937

Reported in 7 individuals with abnormal biochemical metabolism.
Sources: ClinGen
Created: 3 Jun 2024, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glycine encephalopathy MONDO:0011612

Publications

Created: 3 Jun 2024, 7:26 a.m.

Panel version: 1.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • glycine encephalopathy MONDO:0011612
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GCSH was added gene: GCSH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515; 33569080 Phenotypes for gene: GCSH were set to glycine encephalopathy MONDO:0011612 Review for gene: GCSH was set to GREEN