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| Malformations of cortical development v2.131 | SNAP29 | Eleanor Williams Tag for-review was removed from gene: SNAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | SNAP29 | Sarah Leigh commented on gene: SNAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | SNAP29 |
Eleanor Williams Source Expert Review Green was added to SNAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.39 | SNAP29 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.38 | SNAP29 | Arina Puzriakova Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.37 | SNAP29 | Arina Puzriakova Tag for-review tag was added to gene: SNAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.37 | SNAP29 | Arina Puzriakova Classified gene: SNAP29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.37 | SNAP29 |
Arina Puzriakova Added comment: 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) |
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| Malformations of cortical development v2.37 | SNAP29 | Arina Puzriakova Gene: snap29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | SNAP29 |
Zornitza Stark 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 Added comment: 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 list |
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