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Cataracts

Gene: CTDP1

Red List (low evidence)

CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 10 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK. The gene is Green on the neuropathy and ID panels.
Created: 7 Jul 2020, 9:41 a.m. | Last Modified: 7 Jul 2020, 9:42 a.m.
Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168

Publications

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