Hereditary ataxia
Gene: GJC2
GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is on the Autosomal Recessive Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Leukodystrophy includes ataxia. Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKODYSTROPHY, HYPOMYELINATING, 2, multiple cases and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951. Discussed internally and promoted to red.Created: 23 Aug 2016, 9:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Ataxia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autosomal Recessive Ataxia
- Leukodystrophy, hypomyelinating, 2
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Adult onset leukodystrophy
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- DDG2P
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
History Filter Activity
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GJC2 were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 2
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
23 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GJC2 was added to Hereditary ataxiapanel. Sources: Expert list
23 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GJC2 was created by ellenmcdonagh