Malformations of cortical development
Gene: SNAP29The 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
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
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
Tag for-review was removed from gene: SNAP29.
Source Expert Review Green was added to SNAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783
Tag for-review tag was added to gene: SNAP29.
Gene: snap29 has been classified as Amber List (Moderate Evidence).
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