Epidermolysis bullosa
Gene: KRT14

KRT14 (keratin 14)
EnsemblGeneIds (GRCh38): ENSG00000186847
EnsemblGeneIds (GRCh37): ENSG00000186847
OMIM: 148066, Gene2Phenotype
KRT14 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from Amber to Green due to reviewer comments and evidence in the literature
Created: 20 Apr 2017, 3:50 p.m.

Comment on publications: added publications to support cases (3 or more unrelated cases):
Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;
PMID: 1717157; 10733662
Epidermolysis bullosa simplex, Koebner type (AD), 131900;
PMID: 1720261;7682883
Weber-Cockayne type (AD), 131800
PMID:7506606,16098032,12485428
Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000
PMID: 16960809
Epidermolysis bullosa simplex, recessive 1 (AR), 601001;
PMID:7526933;7525408,7561171
Created: 20 Apr 2017, 3:49 p.m.

Comment on phenotypes: revised phenotypes added synonyms and MOI specific to disorder
Created: 20 Apr 2017, 2:55 p.m.

Comment on mode of inheritance: added MOI based on reviewer comment and evidence in the literature
Created: 20 Apr 2017, 2:45 p.m.

Created: 20 Apr 2017, 2:45 p.m.

Panel version: 0.25

John McGrath (King's College London)

Green List (high evidence)

mostly AD - EB simplex - occasionally AR - EB Simplex - some other mutations can cause non-EB Naegeli-Franceschetti-Jadassohn ectodermal dysplasia
Created: 19 Nov 2015, 3:43 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
autosomal dominant Epidermolysis bullosa simplex; occasionally Autosomal recessive Epidermolysis bullosa Simplex; non-EB Naegeli-Franceschetti-Jadassohn ectodermal dysplasia

Created: 19 Nov 2015, 3:43 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760
Epidermolysis bullosa simplex, Koebner type (AD), 131900
Epidermolysis Bullosa Simplex, Generalized
Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800
Epidermolysis Bullosa Simplex, Localized
Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000
Epidermolysis bullosa simplex, recessive 1 (AR), 601001
Dermatopathia pigmentosa reticularis (AD), 125595

OMIM

148066

Clinvar variants

Variants in KRT14

Penetrance

Complete

Publications

Panels with this gene