Fetal anomalies
Gene: HSF4

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Cataracts variably present at birth
Created: 8 Nov 2021, 2:14 a.m. | Last Modified: 8 Nov 2021, 2:14 a.m.

Panel Version: 0.158

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 5, multiple types MIM#116800

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

Created: 8 Nov 2021, 2:14 a.m.
Last Modified: 8 Nov 2021, 2:14 a.m.
Panel version: 0.158

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: Imported from Cataract panel version 0.143

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Cataract 5, multiple types MIM#116800

OMIM

602438

Clinvar variants

Variants in HSF4

Penetrance

None

Panels with this gene