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BabyScreen+ newborn screening

Gene: KRT5

Red List (low evidence)

KRT5 (keratin 5)
EnsemblGeneIds (GRCh38): ENSG00000186081
EnsemblGeneIds (GRCh37): ENSG00000186081
OMIM: 148040, Gene2Phenotype
KRT5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene cause a variety of EB phenotypes.

Variable severity, generally congenital onset.

No specific treatment.
Created: 23 Nov 2022, 10:36 p.m. | Last Modified: 23 Nov 2022, 10:36 p.m.
Panel Version: 0.1065

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Dowling-Degos disease 1, MIM# 179850
  • Epidermolysis bullosa simplex-MCR, MIM# 609352
  • Epidermolysis bullosa simplex-MP 131960
  • Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760
  • Epidermolysis bullosa simplex, Koebner type, MIM# 131900
  • Epidermolysis bullosa simplex, recessive 1, MIM# 601001
  • Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
OMIM
148040
Clinvar variants
Variants in KRT5
Penetrance
None
Panels with this gene

History Filter Activity

23 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt5 has been classified as Red List (Low Evidence).

23 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800

23 Nov 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt5 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT5 was added gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex