Leukodystrophy Victorian Clinical Genetics Services
Gene: GJC2EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Primary lymphoedema
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)GJC2 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)GJC2 was created by Sarah Leigh