Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 2
- Autosomal Recessive Ataxia
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Leukodystrophy, adult onset
- Primary lymphoedema
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Fetal anomalies
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GJC2 was added gene: GJC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia