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| Pigmentary skin disorders v0.27 | ABCD4 |
Catherine Snow Source Expert Review Amber was added to ABCD4. Added phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4 Publications for gene ABCD4 were changed from to 25234635 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Pigmentary skin disorders v0.25 | ABCD4 | Tom Cullup reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 25234635; Phenotypes: Progressive hyperpigmentation due to VitB12 metabolism defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | ABCD4 | Rebecca Foulger Source London North GLH was added to ABCD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | ABCD4 | Rebecca Foulger reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect |
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