| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar keratoderma and erythrokeratodermas v1.20 | 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 4 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 20597923, 29902798) none have reported dermal abnormalities. It is possible that these may have been overlooked in the context of other more prominent features of the disorder - but this further emphasises the limited value of this panel for this particular phenotype. MOI for GJA1 on the GMS Palmoplantar keratodermas (R166) panel was set to 'monoallelic' only in 2019, and so the MOI was updated on this panel to reflect this. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100); to: 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 4 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 20597923, 29902798) none have reported dermal abnormalities. It is possible that these may have been overlooked in the context of other more prominent features of the disorder - but this further emphasises the limited value of this panel for this particular phenotype. MOI for GJA1 on the GMS Palmoplantar keratodermas (R166) panel was set to 'monoallelic' in 2019, and so the MOI was also updated to 'monoallelic' on this panel to reflect this. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) |
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| Palmoplantar keratoderma and erythrokeratodermas v1.20 | GJA1 | Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.19 | GJA1 |
Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1. Tag Q3_21_expert_review was removed from gene: GJA1. |
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| Palmoplantar keratoderma and erythrokeratodermas v1.19 | 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 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 4 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 20597923, 29902798) none have reported dermal abnormalities. It is possible that these may have been overlooked in the context of other more prominent features of the disorder - but this further emphasises the limited value of this panel for this particular phenotype. MOI for GJA1 on the GMS Palmoplantar keratodermas (R166) panel was set to 'monoallelic' only in 2019, and so the MOI was updated on this panel to reflect this. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) |
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| Palmoplantar keratoderma and erythrokeratodermas v1.19 | 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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| Palmoplantar keratoderma and erythrokeratodermas v1.19 | 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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| Palmoplantar keratoderma and erythrokeratodermas v1.19 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.18 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratodermia variabilis et progressiva 3, 617525; Erythrokeratoderma; Palmoplantar keratoderma; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; keratoderma, hypotrichosis and leukonychia to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Oculodentodigital dysplasia, OMIM:164200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger marked GJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger classified GJA1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger commented on GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Edel O'Toole reviewed GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger classified GJA1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger commented on GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger commented on GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger commented on GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger edited their review of GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas | GJA1 | Rebecca Foulger commented on GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||