Ectodermal dysplasia
Gene: KRT86

KRT86 (keratin 86)
EnsemblGeneIds (GRCh38): ENSG00000170442
EnsemblGeneIds (GRCh37): ENSG00000170442
OMIM: 601928, Gene2Phenotype
KRT86 is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 12:48 p.m. | Last Modified: 6 Dec 2024, 12:48 p.m.

Panel Version: 3.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Dec 2024, 12:48 p.m.
Last Modified: 6 Dec 2024, 12:48 p.m.
Panel version: 3.35

Arina Puzriakova (Genomics England Curator)

Comment 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

Created: 6 Nov 2023, 1:07 p.m.
Last Modified: 6 Nov 2023, 1:07 p.m.
Panel version: 3.17

Ronnie Wright (North West GLH)

Green List (high evidence)

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 GMS
Created: 18 Sep 2023, 10:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Monilethrix

Publications

Created: 18 Sep 2023, 10:59 a.m.

Panel version: 3.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Monilethrix, OMIM:158000

OMIM

601928

Clinvar variants

Variants in KRT86

Penetrance

Incomplete

Publications

Panels with this gene

Ectodermal dysplasia

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: KRT86. Tag Q4_23_NHS_review was removed from gene: KRT86.

6 Dec 2024, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to KRT86. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Nov 2023, Gel status: 2