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Fetal anomalies

Gene: SNAP29

Green List (high evidence)

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)).
Sources: Literature
Created: 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

History Filter Activity

28 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snap29 has been classified as Green List (High Evidence).

28 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snap29 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNAP29 was added gene: SNAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592 Phenotypes for gene: SNAP29 were set to CEDNIK syndrome, MONDO:0012290; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528