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| Pigmentary skin disorders v2.3 | GJA1 | Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v2.3 | GJA1 | Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v2.2 | GJA1 | Arina Puzriakova Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.15 | GJA1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. Monoallelic variants can cause EKVP3 (MIM: 617525) which manifests in hyperpigmentation. Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM: 104100), also associated with heterozygous variants. Biallelic variants are not pertinent to this panel. |
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| Pigmentary skin disorders v1.15 | GJA1 | Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.14 | GJA1 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.14 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | GJA1 |
Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 for gene: GJA1 Publications for gene GJA1 were changed from to 25398053 |
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| Pigmentary skin disorders v0.25 | GJA1 | Tom Cullup reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | GJA1 | Rebecca Foulger Source London North GLH was added to GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | GJA1 | Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 |
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