Epidermolysis bullosa and congenital skin fragilityGene: KRT10
Following discussion with the Genomics England clinical team KRT10 can be classified as Green.
Created: 4 Dec 2019, 10:31 a.m. | Last Modified: 4 Dec 2019, 10:31 a.m.
Panel Version: 0.24
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:KRT10; 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: 0.15
Note from John McGrath (email correspondance): There is an argument to have KRT1, KRT10 and KRT2 as green genes as patients can present with skin fragility initially before the ichthyosis phenotype ensues.
Created: 7 Jan 2019, 4:50 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolytic hyperkeratosis, 113800; EHK
Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Gene: krt10 has been classified as Green List (High Evidence).
Source Expert Review Amber was added to KRT10. Mode of inheritance for gene KRT10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: KRT10 was added gene: KRT10 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT10 were set to EHK; Epidermolytic hyperkeratosis, 113800