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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 2 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Ectodermal dysplasia, pure hair and nail type

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: publications and OMIM.
Created: 25 Jul 2016, 9:21 a.m.
Comment on list classification: Promoted from red to green due to expert review and 3 family reports.
Created: 25 Jul 2016, 9:21 a.m.
Created: 25 Jul 2016, 9:21 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, pure hair and nail type
  • Ectodermal dysplasia 4, hair/nail type, 602032
OMIM
602767
Clinvar variants
Variants in KRT85
Penetrance
None
Publications
  • 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).
  • 16525032 (a homozygous variant identified in a large kindred of Pakistani origin)
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KRT85 was added gene: KRT85 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT85 were set to 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).; 16525032 (a homozygous variant identified in a large kindred of Pakistani origin) Phenotypes for gene: KRT85 were set to Ectodermal dysplasia, pure hair and nail type; Ectodermal dysplasia 4, hair/nail type, 602032