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.
Congenital cataracts, facial dysmorphism, and neuropathy, 604168
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
This gene has been classified as Red List (Low Evidence).
CTDP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen