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Hair disorders v0.24 KDF1 Bryony Thompson Marked gene: KDF1 as ready
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.24 KDF1 Bryony Thompson Classified gene: KDF1 as Amber List (moderate evidence)
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.23 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDF1 were set to 27838789; 24075906
Phenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Review for gene: KDF1 was set to AMBER
Added comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model.
Sources: Expert list