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Mosaic skin disorders

Gene: GJA1

Red List (low evidence)
GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Only published in one article.
Somatic mutation p.A44V identified in one individual with ILVEN.
Sources: Other
Created: 3 Apr 2023, 4:41 a.m.

Mode of inheritance
Unknown

Phenotypes
Inflammatory linear verrucous epidermal naevus (ILVEN)

Publications

Mode of pathogenicity
Other

Created: 3 Apr 2023, 4:41 a.m.

Panel version: 1.1

History Filter Activity

5 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja1 has been classified as Red List (Low Evidence).

5 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja1 has been classified as Red List (Low Evidence).

3 Apr 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GJA1 was added gene: GJA1 was added to Mosaic skin disorders. Sources: Other Mode of inheritance for gene: GJA1 was set to Unknown Publications for gene: GJA1 were set to 27890787 Phenotypes for gene: GJA1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN) Mode of pathogenicity for gene: GJA1 was set to Other Review for gene: GJA1 was set to RED