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Mosaic skin disorders v1.6 GJA1 Bryony Thompson Marked gene: GJA1 as ready
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Classified gene: GJA1 as Red List (low evidence)
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.1 GJA1 Sangavi Sivagnanasundram 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
Added comment: Only published in one article.
Somatic mutation p.A44V identified in one individual with ILVEN.
Sources: Other