Hair disorders
Gene: KRT86
KRT86 (keratin 86)
EnsemblGeneIds (GRCh38): ENSG00000170442
EnsemblGeneIds (GRCh37): ENSG00000170442
OMIM: 601928, Gene2Phenotype
KRT86 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000170442
EnsemblGeneIds (GRCh37): ENSG00000170442
OMIM: 601928, Gene2Phenotype
KRT86 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. More than 20 families reported. Codon 413 is a hotspot.Created: 7 Mar 2022, 8:18 a.m. | Last Modified: 7 Mar 2022, 8:18 a.m.
Panel Version: 0.50
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
- 601928
- Clinvar variants
- Variants in KRT86
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Mar 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt86 has been classified as Green List (High Evidence).
7 Mar 2022, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRT86 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KRT86 was added gene: KRT86 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT86 were set to 31332722 Phenotypes for gene: KRT86 were set to Monilethrix, 158000