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| Cerebellar and Pontocerebellar Hypoplasia v0.38 | CWF19L1 | Zornitza Stark Marked gene: CWF19L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.38 | CWF19L1 | Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.38 | CWF19L1 | Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.38 | CWF19L1 | Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.32 | CWF19L1 |
Elena Savva gene: CWF19L1 was added gene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 616127 Review for gene: CWF19L1 was set to GREEN Added comment: Cerebellar hypoplasia predominantly affecting the vermis (OMIM) PMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below) PMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining PMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784. PMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive. Sources: Expert Review |
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