Ectodermal dysplasia

Gene: KRT81

Amber List (moderate evidence)

KRT81 (keratin 81)
EnsemblGeneIds (GRCh38): ENSG00000205426
EnsemblGeneIds (GRCh37): ENSG00000205426
OMIM: 602153, Gene2Phenotype
KRT81 is in 1 panel

1 review

Catherine Snow (Genomics England)

I don't know

KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms, therefore classifying KRT81 as Amber.
Created: 3 Dec 2019, 11:20 a.m. | Last Modified: 3 Dec 2019, 12:19 p.m.
Panel Version: 0.34
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:KRT81; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.21

Phenotypes
Monilethrix

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
OMIM
602153
Clinvar variants
Variants in KRT81
Penetrance
None
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: KRT81 was added gene: KRT81 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown