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Epidermolysis bullosa and congenital skin fragility

Gene: KRT10

Green List (high evidence)
KRT10 (keratin 10)
EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 8 panels

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

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
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.24

Rebecca Foulger (Genomics England curator)

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.
Created: 7 Jan 2019, 4:50 p.m.

Panel version: 0.9

David Kelsell (Queen Mary University of London)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epidermolytic hyperkeratosis, 113800; EHK

Created: 12 Dec 2016, 11:51 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
OMIM
148080
Clinvar variants
Variants in KRT10
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: krt10 has been classified as Green List (High Evidence).

2 Sep 2019, Gel status: 2

Added New Source, Set mode of inheritance, Status Update

Catherine Snow (Genomics England)

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)

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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