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Prepair 1000+

Gene: KRT8

Red List (low evidence)

KRT8 (keratin 8)
EnsemblGeneIds (GRCh38): ENSG00000170421
EnsemblGeneIds (GRCh37): ENSG00000170421
OMIM: 148060, Gene2Phenotype
KRT8 is in 5 panels

1 review

Shakira Heerah (Victorian Clinical Genetics Services)

Red List (low evidence)

Not enough evidence to suggest KRT8 causes liver disease, only that it is a risk factor (PMID:12724528)
Inheritance seems to be monoallelic, not biallelic. PMID:9011570 suggests cirrhosis of an undetermined cause found only 1 patient with het A-to-T inversion in KRT18gene.
No new publications since mid-2000s
Created: 30 Dec 2024, 2:22 a.m. | Last Modified: 30 Dec 2024, 2:22 a.m.
Panel Version: 1.978

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cirrhosis, cryptogenic, MIM#215600

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Cirrhosis, cryptogenic, MIM#215600
OMIM
148060
Clinvar variants
Variants in KRT8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt8 has been classified as Red List (Low Evidence).

17 Jan 2025, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT8 were changed from CIRRHOSIS, FAMILIAL, MIM #215600 to Cirrhosis, cryptogenic, MIM#215600

1 Jun 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: KRT8 was added gene: KRT8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT8 were set to 12724528; 11372009; 15235035 Phenotypes for gene: KRT8 were set to CIRRHOSIS, FAMILIAL, MIM #215600