Bilateral congenital or childhood onset cataracts
Gene: HSF4EnsemblGeneIds (GRCh38): ENSG00000102878
EnsemblGeneIds (GRCh37): ENSG00000102878
OMIM: 602438, Gene2Phenotype
HSF4 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- Cataract 5, multiple types, OMIM:116800
- OMIM
- 602438
- Clinvar variants
- Variants in HSF4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HSF4 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HSF4 were changed from Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HSF4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Added New Source
GEL ()HSF4 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()HSF4 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()HSF4 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services