Ectodermal dysplasia
Gene: KRT86Comment on list classification: New gene added to this panel by Ronnie Wright (NWGLH). KRT86 is associated with a relevant phenotype in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification. Monoallelic variant have been linked to monilethrix and multiple (>3) families have been reported in the literature. Overall there is enough evidence to promote this gene to Green at the next GMS panel update.Created: 6 Nov 2023, 1:07 p.m. | Last Modified: 6 Nov 2023, 1:07 p.m.
Panel Version: 3.17
We've had clinician enquiries in North West GLH about Keratin Genes associated with Monilethrix (see also KRT81 and KRT83) not being present in Ectodermal dysplasia panel. It may be worth reviewing the evidence for all 3 of these genes. There are few publications for KRT81 and KRT83 but I think there are sufficient for KRT86 and for all 3 genes the reported variants seem to be consistent with pathogenic enriched regions in Keratin genes (see PER viewer for whole Keratin gene family https://per.broadinstitute.org/).
Sources: NHS GMSCreated: 18 Sep 2023, 10:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Monilethrix
Publications
Publications for gene: KRT86 were set to 10469314; 10594761; 10504448; 12653715; 10878478; 25557232
Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715
Gene: krt86 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: KRT86. Tag Q4_23_NHS_review tag was added to gene: KRT86.
Phenotypes for gene: KRT86 were changed from Monilethrix to Monilethrix, OMIM:158000
gene: KRT86 was added gene: KRT86 was added to Ectodermal dysplasia. Sources: NHS GMS Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715 Phenotypes for gene: KRT86 were set to Monilethrix Penetrance for gene: KRT86 were set to Incomplete Review for gene: KRT86 was set to GREEN