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Gene: KRT14

Green List (high evidence)
KRT14 (keratin 14)
EnsemblGeneIds (GRCh38): ENSG00000186847
EnsemblGeneIds (GRCh37): ENSG00000186847
OMIM: 148066, Gene2Phenotype
KRT14 is in 9 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma.

HGNC approved symbol: KRT14
Is the phenotype severe and early onset ,18yo? Y
Created: 23 Oct 2024, 3 a.m. | Last Modified: 23 Oct 2024, 3 a.m.
Panel Version: 1.470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976

Publications

Created: 23 Oct 2024, 3 a.m.
Last Modified: 23 Oct 2024, 3 a.m.
Panel version: 1.470

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001
  • MONDO:0010976
OMIM
148066
Clinvar variants
Variants in KRT14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt14 has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976

24 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT14 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3) for gene: KRT14

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT14 was added gene: KRT14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)