Hair disorders

Gene: HRURF

Green List (high evidence)

HRURF (HR Upstream Open Reading Frame)
EnsemblGeneIds (GRCh38): ENSG00000288677
EnsemblGeneIds (GRCh37): ENSG00000288677
OMIM: 619257, Gene2Phenotype
HRURF is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported.
Sources: Literature
Created: 10 Jun 2025, 8:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 4, MIM# 146550

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotrichosis 4, MIM# 146550
OMIM
619257
Clinvar variants
Variants in HRURF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hrurf has been classified as Green List (High Evidence).

10 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hrurf has been classified as Green List (High Evidence).

10 Jun 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HRURF was added gene: HRURF was added to Hair disorders. Sources: Literature Mode of inheritance for gene: HRURF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRURF were set to 39872230; 40433810; 37012647; 28406533; 26269244; 24961381 Phenotypes for gene: HRURF were set to Hypotrichosis 4, MIM# 146550 Review for gene: HRURF was set to GREEN