Cataracts

Gene: CTDP1

Red List (low evidence)

CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 9 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

c.863+389 C>T is the only mutation described, in Rudari Vlax Roma population with congenital cataracts with facial dysmorphism and neuropathy (CCFDN)
Created: 2 Jun 2016, 1:20 p.m.

Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, 604168

Publications

  • Varon et al (2003) Nature Genet. 35: 185-189

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: Should remain red due to expert review.
Created: 2 Jun 2016, 1:38 p.m.
Not on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME.
Created: 29 Apr 2016, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
OMIM
604927
Clinvar variants
Variants in CTDP1
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CTDP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen