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| Pigmentary skin disorders v0.27 | PALB2 |
Catherine Snow Added phenotypes FANCN; FANCONI ANEMIA, COMPLEMENTATION GROUP N for gene: PALB2 Publications for gene PALB2 were changed from to 17200672 |
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| Pigmentary skin disorders v0.25 | PALB2 | Tom Cullup reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.16 | PALB2 | Catherine Snow Added comment: Comment on mode of inheritance: Advice from clinical team to change PALB2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.16 | PALB2 | Catherine Snow Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | PALB2 | Rebecca Foulger Source London North GLH was added to PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | PALB2 | Rebecca Foulger reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PALB2 were set to Fanconi Anaemia |
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