Epidermolysis bullosa

Gene: KRT14

Green List (high evidence)

>3 families reported with an ectodermal dysplasia syndrome that involves teeth, hair, and skin.
Sources: NHS GMS

Created: 17 May 2021, 5:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Naegeli-Franceschetti-Jadassohn syndrome MIM#161000; Dermatopathia pigmentosa reticularis MIM#125595

Publications

• 16960809
• 30968399

Green List (high evidence)

AD NFJS: haploinsufficiency due to N-terminal (E1/V1 domain) null variants (NMD predicted). AR EBS: null variants located further downstream in the central alpha-helical rod domain (still NMD predicted). AD EBS: dominant negative missense variants located in the central alpha-helical rod domain. Note: only 1 family reported for the DPR phenotype in OMIM; variant location similar to NFJS variants.

Created: 13 Feb 2020, 5:22 a.m. | Last Modified: 13 Feb 2020, 5:22 a.m.

Panel Version: 0.1348

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000

Publications

• 16960809
• 18049449

Green List (high evidence)

AD NFJS: haploinsufficiency due to N-terminal (E1/V1 domain) null variants (NMD predicted)
AR EBS: null variants located further downstream in the central alpha-helical rod domain (still NMD predicted)
AD EBS: dominant negative missense variants located in the central alpha-helical rod domain
Note: only 1 family reported for the DPR phenotype in OMIM; variant location similar to NFJS variants.

Created: 12 Feb 2020, 11:13 p.m. | Last Modified: 12 Feb 2020, 11:13 p.m.

Panel Version: 0.19

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000

Publications

• 16960809
• 18049449

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice