1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. KRT6A
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KRT6A

Green List (high evidence)
KRT6A (keratin 6A)
EnsemblGeneIds (GRCh38): ENSG00000205420
EnsemblGeneIds (GRCh37): ENSG00000205420
OMIM: 148041, Gene2Phenotype
KRT6A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well-established gene-disease association. Mostly missense and in-frame deletions that exert dominant-negative effect reported.
Created: 2 Mar 2020, 5:32 a.m. | Last Modified: 2 Mar 2020, 5:32 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pachyonychia congenita 3 (MIM#615726)

Publications

Mode of pathogenicity
Other

Created: 2 Mar 2020, 5:32 a.m.
Last Modified: 2 Mar 2020, 5:32 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)
OMIM
148041
Clinvar variants
Variants in KRT6A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt6a has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)

2 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT6A were set to

2 Mar 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: KRT6A was changed from to Other

2 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT6A was added gene: KRT6A was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT6A was set to Unknown