DDG2P
Gene: GJC2

GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related lymphatic malformation are moderate, monoallelic_autosomal and undetermined (PMID:20537300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00533. The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related leukodystrophy, hypomyelinating are definitive, biallelic_autosomal and undetermined (PMIDs: 15192806, 16969684, 18094336, 19056803, 8733901). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00695.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease LYMPHEDEMA, HEREDITARY, IC, OMIM:613480 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:20537300). The DDG2P confidence category for the disease LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 18094336;15192806;19056803;8733901;16969684).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
MONDO:0013278; LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804; OMIM:608804.0; MONDO:0012125; LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; OMIM:613480.0; GJC2-related leukodystrophy, hypomyelinating; GJC2-related lymphatic malformation

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating.
Created: 11 Jun 2019, 3:25 p.m.

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for all 3 disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

SPASTIC PARAPLEGIA, 44 613206
LEUKODYSTROPHY, HYPOMYELINATING, 2 608804
LYMPHEDEMA, HEREDITARY, IC 613480

OMIM

608803

Clinvar variants

Variants in GJC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GJC2 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806

11 Jun 2019, Gel status: 4