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Mosaic skin disorders - deep sequencing v3.22 GJA1 Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v3.21 GJA1 Arina Puzriakova Publications for gene: GJA1 were set to PMID:
Mosaic skin disorders - deep sequencing v3.7 GJA1 Ida Ertmanska changed review comment from: 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 (30.5%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).; to: 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).
Mosaic skin disorders - deep sequencing v3.7 GJA1 Ida Ertmanska Phenotypes for gene: GJA1 were changed from Inflammatory Linear Verrucous Epidermal Naevi (ILVEN) to inflammatory linear verrucous epidermal nevus, MONDO:0019318
Mosaic skin disorders - deep sequencing v3.6 GJA1 Ida Ertmanska Publications for gene: GJA1 were set to PMID: 27890787
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Classified gene: GJA1 as Red List (low evidence)
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Added comment: 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.
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska changed review comment from: 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 (30.5%).; to: 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 (30.5%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska edited their review of gene: GJA1: Changed rating: RED
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27890787; Phenotypes: inflammatory linear verrucous epidermal nevus, MONDO:0019318; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v3.1 GJA1 Veronica Kinsler gene: GJA1 was added
gene: GJA1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: GJA1 was set to Other
Publications for gene: GJA1 were set to PMID: 27890787
Phenotypes for gene: GJA1 were set to Inflammatory Linear Verrucous Epidermal Naevi (ILVEN)
Review for gene: GJA1 was set to GREEN
Added comment: Mosaic, potential for germline transmission
Sources: Expert Review