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  2. Vascular Malformations_Somatic
  3. GJA4
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Vascular Malformations_Somatic

Gene: GJA4

Green List (high evidence)
GJA4 (gap junction protein alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000187513
EnsemblGeneIds (GRCh37): ENSG00000187513
OMIM: 121012, Gene2Phenotype
GJA4 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature
Created: 9 Apr 2021, 5:51 a.m. | Last Modified: 9 Apr 2021, 6:13 a.m.
Panel Version: 1.4

Mode of inheritance
Other

Phenotypes
Cavernous hemangioma

Publications

  • https://doi.org/10.1016/j.xhgg.2021.100028

Mode of pathogenicity
Other

Created: 9 Apr 2021, 5:51 a.m.
Last Modified: 9 Apr 2021, 6:13 a.m.
Panel version: 1.3

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cavernous hemangioma
Tags
somatic
OMIM
121012
Clinvar variants
Variants in GJA4
Penetrance
None
Publications
  • https://doi.org/10.1016/j.xhgg.2021.100028
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja4 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: GJA4 was added gene: GJA4 was added to Vascular Malformations_Somatic. Sources: Literature somatic tags were added to gene: GJA4. Mode of inheritance for gene: GJA4 was set to Other Publications for gene: GJA4 were set to https://doi.org/10.1016/j.xhgg.2021.100028 Phenotypes for gene: GJA4 were set to Cavernous hemangioma Mode of pathogenicity for gene: GJA4 was set to Other Review for gene: GJA4 was set to GREEN