Bilateral congenital or childhood onset cataracts
Gene: TDRD7PMID: 32420594 (2020) - Knockout mouse model recapitulates human cataracts phenotype and provides supporting functional data.Created: 3 Sep 2020, 11:46 a.m. | Last Modified: 3 Sep 2020, 11:46 a.m.
Panel Version: 2.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataracts
Publications
2 families and mouse modelCreated: 25 May 2016, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Cataract; Cataract 36, 613887
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green due to expert review, and current diagnostic at Manchester.Created: 31 May 2016, 11:44 a.m.
It is on the Manchester congenital cataracts gene panel. Is a possible DD gene for cataract congenital autosomal recessive type 4. One family reported in OMIM.
Created: 25 Apr 2016, 8:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for TDRD7 were set to PMID: 25120344;24435515; Lachke et al (2011) Science 331(6024):1571-1576
This gene has been classified as Amber List (Moderate Evidence).
TDRD7 was added to Cataractspanel. Sources: UKGTN
TDRD7 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
TDRD7 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services