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Mackenzie's Mission_Reproductive Carrier Screening

Gene: KRT8

Red List (low evidence)

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom.
Created: 15 Apr 2021, 6:59 a.m. | Last Modified: 15 Apr 2021, 7:01 a.m.
Panel Version: 0.69

Sarah Righetti (University of New South Wales)

Red List (low evidence)

OMIM misannotates this as biallelic inheritance when it is monoallelic; text cites PMID:11372009 and PMID:12724528 which assert that heterozygotes with KRT8:p.G61C show increased susceptibility to cryptogenic and noncyrptogenic cirrhosis.

PMID: 15235035 - "Keratin 8 Y54H and G62C mutations are not associated with liver disease" discredits this - G62C variation was detected in 27 out of 1668 patients (1.6%) compared to 12 out of 679 controls (1.8%).
Created: 28 Jan 2021, 10:56 p.m. | Last Modified: 28 Jan 2021, 10:56 p.m.
Panel Version: 0.50

Mode of inheritance
Other

Phenotypes
CIRRHOSIS, FAMILIAL, MIM #215600

Publications

Details

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

History Filter Activity

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

15 Apr 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600

15 Apr 2021, Gel status: 1

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: KRT8 were set to

15 Apr 2021, Gel status: 1

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT8 was added gene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3)