Vici Syndrome and other autophagy disordersGene: SNAP29
Comment on list classification: Three out of four sources link variants in this gene to CEDNIK syndrome. This is further supported by literature search, in which more than 3 unrelated cases with different variants were identified. In one of the literature papers, it was noted that there may be a founder mutation in 2 families from an Arab-Israeli background.
Created: 12 Jul 2017, 2:29 p.m.
Is a probable DD gene for CEDNIK syndrome.
Created: 29 Apr 2016, 7:58 a.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
This gene has been classified as Green List (High Evidence).
Publications for SNAP29 were set to 26927810; 15968592; 23231787; 25958742
SNAP29 was created by ellenmcdonagh
SNAP29 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature