| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.2142 | CHMP1A | Lilian Downie Classified gene: CHMP1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2142 | CHMP1A | Lilian Downie Gene: chmp1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2141 | CHMP1A | Lilian Downie Tag for review was removed from gene: CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | CHMP1A | Zornitza Stark Tag for review tag was added to gene: CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2005 | CHMP1A | Lilian Downie Marked gene: CHMP1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2005 | CHMP1A | Lilian Downie Added comment: Comment when marking as ready: Inclusion, green on PanelApp and severe childhood disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2005 | CHMP1A | Lilian Downie Gene: chmp1a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1868 | CHMP1A |
Andrew Coventry gene: CHMP1A was added gene: CHMP1A was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP1A were set to 23023333; 37789895 Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8 MIM#614961 Review for gene: CHMP1A was set to AMBER Added comment: Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterised by severe psychomotor impediment, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. Zebrafish model present. PMID: 23023333 - Three families reported, 2 variants; two families likely with founder effect. PMID: 37789895 - describe novel variants in an affected individual, one is deletion of exon 1, other is c.53 T > C (p.Leu18Pro). Total 4 families now reported with 4 variants. Sources: Literature |
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