Vici Syndrome and other autophagy disordersGene: CTDP1
Comment on list classification: Radboud, Emory and literature sources support the link between mutations in this gene and CCFDN. However, a known disease linked with a founder mutation in the Roma-Gypsy population, with no cases found in the literature describing a patient with another background.
Created: 16 Jun 2017, 2:15 p.m.
Is a confirmed DD gene for congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN).
Created: 29 Apr 2016, 7:38 a.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for CTDP1 were set to 26927810; 16939648; 24690360
This gene has been classified as Amber List (Moderate Evidence).
CTDP1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
CTDP1 was created by ellenmcdonagh