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Fetal anomalies

Gene: SNAP29

Amber List (moderate evidence)
SNAP29 (synaptosome associated protein 29)
EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 8 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Bibb (C&S GLH)

I don't know

PMID:28388629 - Found in 2 patients with TUBA8 mutations, they also had PMG, also found to have biallelic LOF variants in SNAP29 that had previously been reported, likely PGM was caused by SNAP29 variant. PMID:21073448 - SNAP29 homozygous (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum. PMID:15968592 - 7 affected individuals, 2 unrleated families (4 boys and 3 girls) progressive microcephaly, facial dysmorphism, palmoplantar keratoderma and ichthyosis - no prenatal manifestaions. PMID:29051910 - a patient with 22q11.2 deletion syndrome cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, presented with GDD, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features. Developed ichthyosis and palmoplantar keratoderma with age- homozygous nonsense mutation c.85C>T (p.Arg29X). PMID:30793783 - 1 patient novel variant. No evidence for prenatal phenotype- Amber - many cases have other dx. Need clear cut prenatal pheotype TO be published
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Maintaining Amber rating as currently there is not enough evidence to promote to Green. Phenotypes do not appear to be fetally-relevant and gestation is typically uneventful. However, symptoms do arise during the first year of life.
Created: 21 Jan 2021, 11:55 a.m. | Last Modified: 21 Jan 2021, 11:55 a.m.
Panel Version: 1.168
Created: 21 Jan 2021, 11:55 a.m.
Last Modified: 21 Jan 2021, 11:55 a.m.
Panel version: 1.168

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

Sprecher et al. (2005) PMID: 15968592 described 2 unrelated consanguineous families.

Fuchs-Telem et al. (2011) PMID: 21073448 reported a brother and sister from a consanguineous family.

Diggle et al (2017) PMID: 28388629 reported a reanalysis of two patients from two consanguineous families (possibly of shared ancestry) whom they had previously reported as having TUBA8 variants, but reanalysis with WES revealed a previously reported homozygous frameshift in SNAP29 (NM_004782.3 c.487dupA, p.Ser163Lysfs*6) in both patients. Their patients had polymicrogyria, developmental delay and optic nerve hypoplasia but none of the dysmorphic/dermatological features reported in 15968592 and 21073448. They felt that the SNAP29 variant probably explained the neurological phenotype in their patients better than the TUBA8 variant, as a TUBA8 KO mouse had no neurological phenotype.
Created: 14 Jul 2020, 10:58 a.m. | Last Modified: 14 Jul 2020, 10:58 a.m.
Panel Version: 1.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CEDNIK syndrome

Publications

Created: 14 Jul 2020, 10:58 a.m.
Last Modified: 14 Jul 2020, 10:58 a.m.
Panel version: 1.74

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for CEDNIK SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528
  • CEDNIK syndrome, MONDO:0012290
OMIM
604202
Clinvar variants
Variants in SNAP29
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290

30 Aug 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629

21 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: snap29 has been classified as Amber List (Moderate Evidence).

21 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SNAP29 were changed from CEDNIK SYNDROME to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290

21 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SNAP29 were set to

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SNAP29 was added gene: SNAP29 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME