Bilateral congenital or childhood onset cataracts

Gene: CTDP1

Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype."

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:21 a.m.

Panel Version: 2.98

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the new review, this gene has been promoted to Amber and tagged with "for-review" for the next round of GMS panel reviews so the new rating can be considered.

Created: 21 Dec 2020, 10:29 a.m. | Last Modified: 21 Dec 2020, 10:29 a.m.

Panel Version: 2.52

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

• 14517542
• 24690360

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

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