Inherited white matter disorders
Gene: GJC2EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: expert review, OMIM and Gene2Phenotype mode of inheritance for leukodystrophy.Created: 5 Aug 2016, 9:33 a.m.
Comment on list classification: 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.Created: 5 Aug 2016, 9:31 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_592
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 10:52 a.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 10:52 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 2, 608804
- Spastic paraplegia 44, autosomal recessive, 613206
- Lymphedema, hereditary, IC, 613480
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Intellectual disability
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Adult onset leukodystrophy
- Fetal anomalies
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for GJC2 were set to 25655951
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Spastic paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Spastic paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480
Upload gene information
Sarah Leigh (Genomics England Curator)GJC2 was added to Inherited white matter disorderspanel. Sources: Expert list
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GJC2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GJC2 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)GJC2 was created by ellenmcdonagh