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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. KRT83
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KRT83

Red List (low evidence)
KRT83 (keratin 83)
EnsemblGeneIds (GRCh38): ENSG00000170523
EnsemblGeneIds (GRCh37): ENSG00000170523
OMIM: 602765, Gene2Phenotype
KRT83 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Expert Review
Created: 8 Mar 2022, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 5, MIM# 617756

Publications

Created: 8 Mar 2022, 9:46 a.m.

Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
OMIM
602765
Clinvar variants
Variants in KRT83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt83 has been classified as Red List (Low Evidence).

8 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT83 was added gene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Mode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT83 were set to 27965375 Phenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756 Review for gene: KRT83 was set to RED