Hair disorders
Gene: KRT85

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

Created: 31 Jul 2020, 12:17 a.m.

Panel version: 0.27

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