1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. KRT5
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - Severe Paediatric Disorders

Gene: KRT5

Green List (high evidence)
KRT5 (keratin 5)
EnsemblGeneIds (GRCh38): ENSG00000186081
EnsemblGeneIds (GRCh37): ENSG00000186081
OMIM: 148040, Gene2Phenotype
KRT5 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KRT5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dowling-Degos disease 1, 179850 (3) | Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) | Epidermolysis bullosa simplex, Koebner type, 131900 (3) | Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) | Epidermolysis bullosa simplex, recessive 1, 601001 (3) | Epidermolysis bullosa simplex-MCR, 609352 (3) | Epidermolysis bullosa simplex-MP, 131960 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | ND | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex-MCR, 609352
  • Dowling-Degos disease 1, 179850
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex-MP, 131960
  • Epidermolysis bullosa simplex, recessive 1, 601001
OMIM
148040
Clinvar variants
Variants in KRT5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene KRT5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KRT5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, recessive 1, 601001; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MP, 131960 for gene: KRT5

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to KRT5.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to KRT5. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KRT5 was added gene: KRT5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KRT5 was set to