Ectodermal dysplasia without a known gene mutation
Gene: KRT14

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

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Naegeli-Franceschetti-Jadassohn syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Naegeli-Franceschetti-Jadassohn syndrome 161000
Created: 10 Aug 2016, 11:59 a.m.

Comment on phenotypes: Variants also reported in Dermatopathia pigmentosa reticularis 125595, Epidermolysis bullosa simplex, Dowling-Meara type 131760, Epidermolysis bullosa simplex, Koebner type 131900, Epidermolysis bullosa simplex, recessive 1 601001 and Epidermolysis bullosa simplex, Weber-Cockayne type 131800

Created: 10 Aug 2016, 11:58 a.m.

Created: 10 Aug 2016, 11:58 a.m.

Panel version: 0.121

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Naegeli-Franceschetti-Jadassohn syndrome 161000

OMIM

148066

Clinvar variants

Variants in KRT14

Penetrance

Complete

Publications

16960809

Panels with this gene