KRT14

keratin 14
OMIM: 148066, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KRT14 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome, 161000
  • Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
  • palmoplantar keratoderma
  • Dermatopathia pigmentosa reticularis, 125595
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760

Green KRT14 in Ichthyosis and erythrokeratoderma


Version 1.66
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000
  • Dermatopathia pigmentosa reticularis, OMIM:125595

Green KRT14 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

review 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

Green KRT14 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review 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

Green KRT14 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome 161000

Green KRT14 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome 161000

Green KRT14 in Pigmentary skin disorders


Version 1.15
Latest signed off version: v1.4 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DPR
  • Epidermolysis bullosa
  • DERMATOPATHIA PIGMENTOSA RETICULARIS
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Dermatopathia pigmentosa reticularis

Green KRT14 in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
  • Dermatopathia pigmentosa reticularis, 125595
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Naegeli-Franceschetti-Jadassohn syndrome, 161000
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex, recessive 1, 601001