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Intellectual disability update Jan 2018

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

1 review

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.
Created: 5 Mar 2018, 12:12 p.m.

Panel version: 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy 605899
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GCSH were set to 1671321; 26503795; 24896178; 25231368

5 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GCSH were set to 1671321; 26503795; 24896178

5 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GCSH were set to 1671321; 26503795

5 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GCSH were set to 1671321

5 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GCSH were set to Glycine encephalopathy 605899

5 Mar 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GCSH was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GCSH was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GCSH was created by Ellen McDonagh