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| Pigmentary skin disorders v0.27 | PMS2 |
Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2 Publications for gene PMS2 were changed from to 10763829 |
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| Pigmentary skin disorders v0.25 | PMS2 | Tom Cullup reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10763829; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.20 | PMS2 | Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change PMS2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.20 | PMS2 | Catherine Snow Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | PMS2 | Rebecca Foulger Source London North GLH was added to PMS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | PMS2 | Rebecca Foulger reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | PMS2 |
Rebecca Foulger gene: PMS2 was added gene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300 |
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