Epidermolysis bullosa

Gene: KRT14

Green List (high evidence)

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.

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

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

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

20 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KRT14 were set to 1717157;10733662;1720261;7682883;7506606;16098032;12485428;16960809;7526933;7525408;7561171

20 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KRT14 were set to 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

20 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KRT14 were set to 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

20 Apr 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for KRT14 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT14 was added to Epidermolysis bullosapanel. Source: UKGTN

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT14 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRT14 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT14 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing