Bilateral congenital or childhood onset cataracts
Gene: TDRD7EnsemblGeneIds (GRCh38): ENSG00000196116
EnsemblGeneIds (GRCh37): ENSG00000196116
OMIM: 611258, Gene2Phenotype
TDRD7 is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
PMID: 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
Sarah Waller (Manchester Centre for Genomic Medicine)
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
- Lachke et al (2011) Science 331(6024):1571-1576
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital Cataract
- Cataract 36, 613887
- OMIM
- 611258
- Clinvar variants
- Variants in TDRD7
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TDRD7 were set to PMID: 25120344;24435515; Lachke et al (2011) Science 331(6024):1571-1576
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()TDRD7 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()TDRD7 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()TDRD7 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services