| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v1.5 | CCDC88C | Zornitza Stark Marked gene: CCDC88C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.5 | CCDC88C | Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.5 | CCDC88C | Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.5 | CCDC88C | Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.4 | CCDC88C |
Zornitza Stark gene: CCDC88C was added gene: CCDC88C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC88C were set to 33602173 Phenotypes for gene: CCDC88C were set to Early-onset pure hereditary spastic paraplegia Review for gene: CCDC88C was set to AMBER Added comment: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant. Gene has been linked to other neurological phenotypes: mono-allelic variants to SCA, and bi-allelic variants to ID. Sources: Literature |
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