Pigmentary skin disorders

Gene: KRT14

Green List (high evidence)

KRT14 (keratin 14)
EnsemblGeneIds (GRCh38): ENSG00000186847
EnsemblGeneIds (GRCh37): ENSG00000186847
OMIM: 148066, Gene2Phenotype
KRT14 is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRT14; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • DPR
  • Epidermolysis bullosa
  • DERMATOPATHIA PIGMENTOSA RETICULARIS
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Dermatopathia pigmentosa reticularis
OMIM
148066
Clinvar variants
Variants in KRT14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes DPR; DERMATOPATHIA PIGMENTOSA RETICULARIS for gene: KRT14 Publications for gene KRT14 were changed from to 16960809

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KRT14.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KRT14 was added gene: KRT14 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa