Polymicrogyria and Schizencephaly
Gene: SNAP29EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 15 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
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: LiteratureCreated: 26 Aug 2020, 3:58 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 (MIM#609528)
- OMIM
- 604202
- Clinvar variants
- Variants in SNAP29
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Palmoplantar Keratoderma and Erythrokeratoderma
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- Ichthyosis
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: snap29 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: snap29 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SNAP29 was added gene: SNAP29 was added to Polymicrogyria and Schizencephaly. Sources: Literature 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