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Epidermolysis bullosa and congenital skin fragility

Gene: KRT14

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized
Created: 24 Mar 2021, 12:59 p.m. | Last Modified: 24 Mar 2021, 12:59 p.m.
Panel Version: 1.29
Created: 24 Mar 2021, 12:59 p.m.
Last Modified: 24 Mar 2021, 12:59 p.m.
Panel version: 1.29

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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800
  • Dermatopathia pigmentosa reticularis (AD), OMIM:125595
  • Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000
  • Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900
  • Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760
  • Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
OMIM
148066
Clinvar variants
Variants in KRT14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KRT14 was added gene: KRT14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT14 were set to 7506606; 7526933; 12485428; 7525408; 10733662; 16960809; 1720261; 7682883; 7561171; 1717157; 16098032 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized