Cataracts

Gene: HSF4

Green List (high evidence)

HSF4 (heat shock transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102878
EnsemblGeneIds (GRCh37): ENSG00000102878
OMIM: 602438, Gene2Phenotype
HSF4 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataracts; Cataract 5, multiple types, 116800

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: From expert reviewer.
Created: 14 Jun 2016, 12:36 p.m.
It is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT ZONULAR HSF4-RELATED and CATARACT MARNER TYPE. It is associated with Cataract 5, multiple types on OMIM.
Created: 22 Apr 2016, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataracts
  • Cataract 5, multiple types, 116800
  • CATARACT ZONULAR HSF4-RELATED
  • CATARACT MARNER TYPE
OMIM
602438
Clinvar variants
Variants in HSF4
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HSF4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 May 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HSF4 were set to Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

HSF4 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

HSF4 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HSF4 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services