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Cataracts

Gene: TDRD7

Green List (high evidence)

TDRD7 (tudor domain containing 7)
EnsemblGeneIds (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)

Green List (high evidence)

2 families and mouse model
Created: 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)

I don't know

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

31 May 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).

31 May 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).

31 May 2016, Gel status: 2

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

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TDRD7 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TDRD7 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TDRD7 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services