Bilateral congenital or childhood onset cataracts
Gene: CTDP1Submitted 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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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
Tag for-review was removed from gene: CTDP1.
Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CTDP1.
Tag founder-effect tag was added to gene: CTDP1.
Publications for gene: CTDP1 were set to 14517542; 24690360; 14517542
Phenotypes for gene: CTDP1 were changed from Congenital cataracts, facial dysmorphism, and neuropathy, 604168 to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402
Publications for gene: CTDP1 were set to
This gene has been classified as Red List (Low Evidence).
CTDP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen