Cataract
Gene: HSF4

HSF4 (heat shock transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102878
EnsemblGeneIds (GRCh37): ENSG00000102878
OMIM: 602438, Gene2Phenotype
HSF4 is in 3 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

- All AD variants reported so far are missense variants and a splice variant located within the DNA-binding domain, whereas the AR variants are in hydrophobic repeat (HR-A/B) domain and downstream of the hydrophobic repeat domain (PMID: 31815953).

- Loss of function by AD and AR variants. Dominant negative is not an established disease mechanism for this gene, but has been speculated in several papers. (PMIDs: 31815953, 29243736, 26490182)
Created: 19 Jun 2020, 2:38 a.m. | Last Modified: 19 Jun 2020, 2:38 a.m.

Panel Version: 0.143

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 5, multiple types, 116800.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2020, 2:37 a.m.
Last Modified: 19 Jun 2020, 2:37 a.m.
Panel version: 0.143

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 5, multiple types, 116800

OMIM

602438

Clinvar variants

Variants in HSF4

Penetrance

None

Publications

Panels with this gene