Hair disorders
Gene: KRT81EnsemblGeneIds (GRCh38): ENSG00000205426
EnsemblGeneIds (GRCh37): ENSG00000205426
OMIM: 602153, Gene2Phenotype
KRT81 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. Recurrent variants at glu413, at least 3 families reported.Created: 9 Mar 2022, 8:02 a.m. | Last Modified: 9 Mar 2022, 8:02 a.m.
Panel Version: 0.53
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Monilethrix, MIM# 158000
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Monilethrix, MIM# 158000
- OMIM
- 602153
- Clinvar variants
- Variants in KRT81
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt81 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRT81 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KRT81 were set to 31332722
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KRT81 was added gene: KRT81 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT81 were set to 31332722 Phenotypes for gene: KRT81 were set to Monilethrix, 158000