Palmoplantar keratoderma and erythrokeratodermas
Gene: SNAP29Comment when marking as ready: 1 Green rating, confirmed DD gene for CEDNIK syndrome (OMIM:609528) plus >3 unrelated cases confirming the association between SNAP29 and CEDNIK syndrome.Created: 10 Jan 2017, 2:10 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 Green rating plus >3 unrelated cases support the gene:disease association. Confirmed DD gene for CEDNIK syndrome (OMIM:609528).Created: 10 Jan 2017, 2:09 p.m.
PMID:25958742 (Bel-Salem et al., 2015) report a consanguineous Jordanian family with CEDNIK syndrome, with features including ichthyosis, keratoderma, dysmorphic features and global developmental delay. They identified a homozygous 1bp deletion (c.223delG) in exon 1 of SNAP29 gene in the affected sisters (the mutation was previously reported by Sprecher et al., 2005, PMID:15968592 but with a different numbering). The presence of c.223delG in two unrelated families suggests a possible founder effect in the Arab population but this needs to be formally established via haplotype analysis.Created: 10 Jan 2017, 2:07 p.m.
In a Pakistani brother and sister with CEDNIK syndrome, Fuchs-Telem et al. (PMID:21073448, 2011) identified homozygosity for a 1-bp insertion (c.486insA) in the SNAP29 gene causing a frameshift predicted to result in premature termination. The mutation was not found in 200 control chromosomes.
Created: 5 Jan 2017, 4:04 p.m.
In affected patients with CEDNIK syndrome (OMIM:609528), Sprecher et al. (PMID:15968592, 2005) identified a 1-bp deletion (220delG) in the SNAP29 gene, resulting in premature termination of the protein. The mutation was not identified in 200 control chromosomes.Created: 5 Jan 2017, 4:04 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 5 Jan 2017, 3:02 p.m.
Comment on publications: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion disorder. PMID:23231787 (McDonald-McGinn et al., 2013) report three novel mutations in SNAP29 in four unrelated patients. SNAP29 maps to 22q11.2 and this work confirms that the phenotypic variability observed in a subset of patients with 22q11.2DS is due to mutations on the non-deleted chromosome.Created: 5 Jan 2017, 3:01 p.m.
SNAP29 is a confirmed DD gene for 'Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome' (Cednik Syndrome, OMIM:609528).Created: 5 Jan 2017, 2:57 p.m.
Hemizygous mutations unmasking recessive phenotype in 22q11.2 deletion syndromeCreated: 16 Nov 2015, 8:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Publications
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528; CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
Publications for SNAP29 were set to 21073448; 15968592
Mode of inheritance for SNAP29 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for SNAP29 were set to 23231787; 15968592
Publications for SNAP29 were set to 23231787; 15968592
SNAP29 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
SNAP29 was created by ellenmcdonagh
SNAP29 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen