Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: KRT74

Red List (low evidence)

KRT74 (keratin 74)
EnsemblGeneIds (GRCh38): ENSG00000170484
EnsemblGeneIds (GRCh37): ENSG00000170484
OMIM: 608248, Gene2Phenotype
KRT74 is in 4 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated hair disorders not detectable by antenatal screening.

PMID: 21188418. Family A, 10 individuals showed ADWH phenotype while in the family B, 14 individuals showed hypotrichosis of the scalp.
Created: 20 Dec 2021, 2:03 a.m. | Last Modified: 20 Dec 2021, 2:03 a.m.
Panel Version: 0.1469

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Woolly hair, autosomal dominant (MIM#194300)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Woolly hair, autosomal dominant (MIM#194300)
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Red List (Low Evidence).

20 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT74 were changed from HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 to Woolly hair, autosomal dominant (MIM#194300)

20 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT74 were set to

20 Dec 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT74 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT74 was added gene: KRT74 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2