Bilateral congenital or childhood onset cataracts
Gene: HSF4
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
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
Publications for gene: HSF4 were set to
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HSF4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for HSF4 were set to Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE
HSF4 was added to Cataractspanel. Sources: UKGTN
HSF4 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
HSF4 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services