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  3. KRT83
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Hair disorders

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

Two families reported.
Created: 8 Mar 2022, 9:43 a.m. | Last Modified: 8 Mar 2022, 9:43 a.m.
Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Monilethrix , MIM#158000

Publications

Created: 8 Mar 2022, 9:43 a.m.
Last Modified: 8 Mar 2022, 9:43 a.m.
Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monilethrix, 158000
OMIM
602765
Clinvar variants
Variants in KRT83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT83 were set to 31332722

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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KRT83 was added gene: KRT83 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT83 were set to 31332722 Phenotypes for gene: KRT83 were set to Monilethrix, 158000