Vici Syndrome and other autophagy disorders

Gene: SNAP29

Green List (high evidence)

SNAP29 (synaptosome associated protein 29)
EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 9 panels

2 reviews

Olivia Niblock (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

Is a probable DD gene for CEDNIK syndrome.
Created: 29 Apr 2016, 7:58 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Clinvar variants
Variants in SNAP29
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.

12 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Jul 2017, Gel status: 0

Set publications

Olivia Niblock (Genomics England Curator)

Publications for SNAP29 were set to 26927810; 15968592; 23231787; 25958742

29 Apr 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

SNAP29 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAP29 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature