Malformations of cortical development
Gene: SNAP29EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 8 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. Cerebral dysgenesis is a universal feature among patients with CEDNIK syndrome caused by biallelic variants in the SNAP29 gene. Reported cerebral abnormalities of various degrees include absence of corpus callosum, cortical dysplasia, pachygyria and polymicrogyria.
There is sufficient evidence to promote SNAP29 to Green at the next GMS panel update (added 'for-review' tag)Created: 21 Jan 2021, 12:16 p.m. | Last Modified: 21 Jan 2021, 12:16 p.m.
Panel Version: 2.37
Zornitza Stark (Australian Genomics)
Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).
Sources: Expert listCreated: 28 Aug 2020, 2:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: SNAP29.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SNAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: SNAP29.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: snap29 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SNAP29 was added gene: SNAP29 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783 Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Review for gene: SNAP29 was set to GREEN gene: SNAP29 was marked as current diagnostic