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Genetic epilepsy syndromes

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

AR ? Glycine encephalopathy - neonatal and infantile forms assocaited with seizures but not the mild or late-onset forms. With neonatal form may not survive to point of developing seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Glycine encephalopathy, 605899

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on reviewers' comments.
Created: 11 Dec 2018, 1:20 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single case reported, insufficient evidence.
Created: 14 Aug 2018, 12:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, MIM#605899

Publications

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GCSH.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GCSH.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Single case reported, insuffic

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to GCSH. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GCSH was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GCSH was created by Sarah Leigh