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Intellectual disability

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on publications: PMID 25231368 & 29304759 report no GCSH variants in Glycine encephalopathy 605899
Created: 5 Mar 2018, 12:27 p.m.
Associated with phenotype in OMIM and as a possible G2P association. At least 1 variant reported in 1 case.
Reported to be linked to isolated ID and ID associated disorders (PMID 26503795) and as candidate ID gene (PMID 24896178)
Created: 5 Mar 2018, 12:12 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GLYCINE ENCEPHALOPATHY

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GCSH was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene GCSH was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GCSH was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen