Ichthyosis and erythrokeratoderma
Gene: KRT2

KRT2 (keratin 2)
EnsemblGeneIds (GRCh38): ENSG00000172867
EnsemblGeneIds (GRCh37): ENSG00000172867
OMIM: 600194, Gene2Phenotype
KRT2 is in 4 panels

1 review

Catherine Snow (Genomics England)

I don't know

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:KRT2; 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: 0.10

Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Ichthyosis bullosa of Siemens, OMIM:146800

OMIM

600194

Clinvar variants

Variants in KRT2

Penetrance

None

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: KRT2 was added gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Ichthyosis and erythrokeratoderma Gene: KRT2