| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v1.48 | COASY | Ain Roesley Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.48 | COASY | Ain Roesley Classified gene: COASY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.48 | COASY | Ain Roesley Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.47 | COASY | Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.140 | COASY | Zornitza Stark Classified gene: COASY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.140 | COASY | Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.33 | COASY | Alison Yeung Marked gene: COASY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.33 | COASY | Alison Yeung Added comment: Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.33 | COASY | Alison Yeung Gene: coasy has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.33 | COASY | Alison Yeung Classified gene: COASY as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.33 | COASY | Alison Yeung Gene: coasy has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.32 | COASY |
Elena Savva gene: COASY was added gene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 Review for gene: COASY was set to AMBER Added comment: Emerging genotype-phenotype association: PMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher. PMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy PMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy Summary: If residual activity -> NBIA phenotype, no cerebellar issues If completely or near null - pontocerebellar hypoplasia Sources: Expert Review |
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