Lissencephaly and Band Heterotopia
Gene: SNAP29

SNAP29 (synaptosome associated protein 29)
EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 15 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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)).
Created: 26 Aug 2020, 3:34 a.m. | Last Modified: 26 Aug 2020, 3:55 a.m.

Panel Version: 0.60

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

Created: 26 Aug 2020, 3:34 a.m.
Last Modified: 26 Aug 2020, 3:55 a.m.
Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)

OMIM

604202

Clinvar variants

Variants in SNAP29

Penetrance

None

Publications

Panels with this gene