Activity
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| Pigmentary skin disorders v0.27 | PORCN |
Catherine Snow Added phenotypes FOCAL DERMAL HYPOPLASIA; FDH for gene: PORCN Publications for gene PORCN were changed from to 17546030 |
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| Pigmentary skin disorders v0.25 | PORCN | Tom Cullup reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, FDH; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | PORCN | Rebecca Foulger Source London North GLH was added to PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | PORCN | Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa |
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