Hair disorders

Gene: KRT85

Green List (high evidence)

KRT85 (keratin 85)
EnsemblGeneIds (GRCh38): ENSG00000135443
EnsemblGeneIds (GRCh37): ENSG00000135443
OMIM: 602767, Gene2Phenotype
KRT85 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition.
Sources: Expert list
Created: 31 Jul 2020, 12:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 4, hair/nail type MIM#602032

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type MIM#602032
OMIM
602767
Clinvar variants
Variants in KRT85
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: krt85 has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KRT85 was added gene: KRT85 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT85 were set to 16525032; 19865094; 31273852 Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032 Review for gene: KRT85 was set to GREEN