Activity
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4 actions
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| Ectodermal dysplasia v0.33 | KRT71 | Catherine Snow commented on gene: KRT71: No further cases identified in the literature therefore KRT71 will retain Amber rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.21 | KRT71 | Catherine Snow reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.15 | KRT71 |
Catherine Snow Source Expert Review Amber was added to KRT71. Mode of inheritance for gene KRT71 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ectodermal dysplasia v0.3 | KRT71 |
Ellen McDonagh gene: KRT71 was added gene: KRT71 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 22592156 Phenotypes for gene: KRT71 were set to hypotrichosis; ?Hypotrichosis 13, 615896; HYPT13; woolly hair |
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