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  3. KRT85
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Ectodermal Dysplasia

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

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

Panel version: Imported from Mendeliome panel version Imported from Hair disorders panel version 0.27

Details

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

History Filter Activity

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KRT85 was added gene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032