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Mendeliome

Gene: KRT83

Amber List (moderate 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)

I don't know

Bi-allelic variants: single family reported with eryhtrokeratodermia variabilis et progressive.

Mono-allelic variants: two families reported with monilethrix.
Created: 8 Mar 2022, 9:40 a.m. | Last Modified: 8 Mar 2022, 9:40 a.m.
Panel Version: 0.11199

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
  • Monilethrix , MIM#158000
OMIM
602765
Clinvar variants
Variants in KRT83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt83 has been classified as Amber List (Moderate Evidence).

8 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT83 were changed from to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000

8 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT83 were set to

8 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT83 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt83 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT83 was added gene: KRT83 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT83 was set to Unknown