Ectodermal dysplasia

Gene: KRT83

Amber List (moderate evidence)

KRT83 (keratin 83)
EnsemblGeneIds (GRCh38): ENSG00000170523
EnsemblGeneIds (GRCh37): ENSG00000170523
OMIM: 602765, Gene2Phenotype
KRT83 is in 1 panel

1 review

Catherine Snow (Genomics England)

I don't know

KRT83 is in OMIM with relevant phenotype of Monilethrix, KRT83 is part of a family of genes with KRT86 and KRT81 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.
Created: 3 Dec 2019, 12:40 p.m. | Last Modified: 3 Dec 2019, 12:43 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:KRT83; 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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Monilethrix, 158000; Erythrokeratodermia variabilis et progressiva, 617756

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
OMIM
602765
Clinvar variants
Variants in KRT83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: KRT83 were set to

3 Dec 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: KRT83 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: KRT83 was added gene: KRT83 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown