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Fetal anomalies

Gene: GJC2

Green List (high evidence)
GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The association with hypomyelinating leukodystrophy is relevant to this panel -- perinatal onset.
Created: 6 Dec 2021, 6:02 a.m. | Last Modified: 6 Dec 2021, 6:02 a.m.
Panel Version: 0.1029

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 2 MIM#608804

Created: 6 Dec 2021, 6:02 a.m.
Last Modified: 6 Dec 2021, 6:02 a.m.
Panel version: 0.1029

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Bi-allelic variants in GJC2 are associated with severe infantile-onset hypomyelinating leukodystrophy. One family reported with a milder phenotype, where spasticity was prominent. Onset of symptoms was in late childhood, with more marked progression in the third decade. Another family reported with an ataxia-predominant phenotype, and another with subclinical leukodystrophy. Hence the link between this gene and isolated HSP is not fully established at this stage.
Created: 6 Dec 2021, 12:52 a.m. | Last Modified: 6 Dec 2021, 12:52 a.m.
Panel Version: 0.957

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Dec 2021, 12:52 a.m.
Last Modified: 6 Dec 2021, 12:52 a.m.
Panel version: 0.957

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjc2 has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJC2 were changed from LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2 to Leukodystrophy, hypomyelinating, 2 MIM#608804

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJC2 were set to

6 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJC2 was added gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2