Vici Syndrome and other autophagy disorders
Gene: SNAP29
SNAP29 (synaptosome associated protein 29)
EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 8 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- CEDNIK
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM
- 604202
- Clinvar variants
- Variants in SNAP29
- Penetrance
- Complete
- Publications
- 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
Created
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