Hereditary ataxia

Gene: GJC2

Green List (high evidence)

GJC2 (gap junction protein gamma 2)
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

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