Inherited white matter disorders
Gene: GJC2Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Mode of inheritance for GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GJC2 were set to 25655951
Phenotypes for GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Spastic paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480
Phenotypes for GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Spastic paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480
GJC2 was added to Inherited white matter disorderspanel. Sources: Expert list
Mode of inheritance for GJC2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
GJC2 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
GJC2 was created by ellenmcdonagh