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Intellectual disability syndromic and non-syndromic

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Mild ID can be a feature of the condition.
Created: 14 Oct 2024, 9:34 a.m. | Last Modified: 14 Oct 2024, 9:34 a.m.
Panel Version: 0.6505

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypomyelinating leukodystrophy 2 MONDO:0012125; hereditary spastic paraplegia 44 MONDO:0013179

Publications

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

History Filter Activity

14 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GJC2 were changed from to hypomyelinating leukodystrophy 2 MONDO:0012125; hereditary spastic paraplegia 44 MONDO:0013179

14 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GJC2 were set to

14 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GJC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJC2 was added gene: GJC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJC2 was set to Unknown