Mosaic skin disorders - deep sequencing

Gene: GJA1

Red List (low evidence)

Comment on list classification: As there is only one individual reported in literature with a skin disorder and a mosaic GJA1 variant, this gene should remain Red for Mosaic skin disorders - deep sequencing, until more evidence emerges.

Created: 2 Dec 2025, 5:09 p.m. | Last Modified: 2 Dec 2025, 5:09 p.m.

Panel Version: 3.5

PMID: 27890787 Umegaki-Arao et al., 2017
14-year-old girl with inflammatory linear verrucous epidermal nevus (ILVEN); onset at 1yo, worsening over time. At age 14, she developed widespread erythematous plaques and verrucous plaques along Blaschko’s lines on the extremities and buttocks, as well as palmoplantar hyperkeratosis. Hair, teeth, and nails were not affected.
8 candidate variants detected; GJA1 c.131C>T (p.A44V) was the only candidate mutation detected in affected epidermis but not in white blood cells; detected in 22 of 72 reads (30%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).

Created: 2 Dec 2025, 5:05 p.m. | Last Modified: 2 Dec 2025, 5:12 p.m.

Panel Version: 3.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
inflammatory linear verrucous epidermal nevus, MONDO:0019318

Publications

• 27890787

Green List (high evidence)

Mosaic, potential for germline transmission
Sources: Expert Review

Created: 31 Oct 2025, 2:28 p.m.

Mode of inheritance
Other

Phenotypes
Inflammatory Linear Verrucous Epidermal Naevi (ILVEN)

Publications

• PMID: 27890787