Hair disorders
Gene: KDF1EnsemblGeneIds (GRCh38): ENSG00000175707
EnsemblGeneIds (GRCh37): ENSG00000175707
OMIM: 616758, Gene2Phenotype
KDF1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 30 Jul 2020, 10:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
- OMIM
- 616758
- Clinvar variants
- Variants in KDF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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