Hair disorders
Gene: KRT71EnsemblGeneIds (GRCh38): ENSG00000139648
EnsemblGeneIds (GRCh37): ENSG00000139648
OMIM: 608245, Gene2Phenotype
KRT71 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models.Created: 29 Jul 2020, 1:32 a.m. | Last Modified: 29 Jul 2020, 1:32 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 13 MIM#615896
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- ?Hypotrichosis 13, 615896
- OMIM
- 608245
- Clinvar variants
- Variants in KRT71
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt71 has been classified as Amber List (Moderate Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: KRT71 were set to 31332722
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt71 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: KRT71 was added gene: KRT71 was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 31332722 Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896