Inherited white matter disorders

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

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)

Green List (high evidence)

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.

History Filter Activity

6 Oct 2016, Gel status: 4

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.

5 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal

5 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).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GJC2 were set to 25655951

6 Jul 2016, Gel status: 1

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

6 Jul 2016, Gel status: 1

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

6 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

GJC2 was added to Inherited white matter disorderspanel. Sources: Expert list

6 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GJC2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJC2 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GJC2 was created by ellenmcdonagh