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| Ichthyosis and erythrokeratoderma v2.12 | GJA1 | Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.12 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.11 | GJA1 |
Arina Puzriakova Source NHS GMS was added to GJA1. Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Ichthyosis and erythrokeratoderma v1.66 | GJA1 | Arina Puzriakova Tag Q3_21_expert_review was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.66 | GJA1 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).; to: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. GJA1 was imported to this panel from the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and the MOI reflects the mixed inheritance pattern associated with GJA1 oculodentodigital dysplasia (ODDD) (dominant - MIM:164200; recessive - MIM:257850) which can manifest with PPK. Following the uncoupling of PPK and erythrokeratodermas into two separate GMS panels (R165 & R166), only monoallelic variants remain relevant to this particular panel. Monoallelic variants can cause erythrokeratodermia variabilis et progressiva 3 (MIM: 617525). Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM:104100), also associated with heterozygous variants. |
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| Ichthyosis and erythrokeratoderma v1.66 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.65 | GJA1 |
Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1. Tag Q3_21_expert_review tag was added to gene: GJA1. |
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| Ichthyosis and erythrokeratoderma v1.65 | GJA1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged). |
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| Ichthyosis and erythrokeratoderma v1.65 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.26 | GJA1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma |
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| Ichthyosis and erythrokeratoderma v1.26 | GJA1 | Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | GJA1 |
Ellen McDonagh gene: GJA1 was added gene: GJA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 25388818; 25964267; 25168385; 16891658; 17256797; 25398053 Phenotypes for gene: GJA1 were set to keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma Mode of pathogenicity for gene: GJA1 was set to Other - please provide details in the comments |
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