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Hair disorders

Gene: KRT74

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hypotrichosis: single family reported.

Woolly hair: two families reported. One of the variants is present in 6 hets in gnomad.
Created: 9 Mar 2022, 8:13 a.m. | Last Modified: 9 Mar 2022, 8:13 a.m.
Panel Version: 0.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 3 , MIM# 613981; Woolly hair, autosomal dominant, MIM# 194300

Publications

Created: 9 Mar 2022, 8:13 a.m.
Last Modified: 9 Mar 2022, 8:13 a.m.
Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Hypotrichosis 3 , MIM# 613981
  • Woolly hair, autosomal dominant, MIM# 194300
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Amber List (Moderate Evidence).

9 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT74 were changed from Hypotrichosis 3, 613981 to Hypotrichosis 3 , MIM# 613981; Woolly hair, autosomal dominant, MIM# 194300

9 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT74 were set to

9 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KRT74 was added gene: KRT74 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT74 were set to Hypotrichosis 3, 613981