Hereditary Spastic Paraplegia - paediatric
Gene: CCDC88CEnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 8 Apr 2021, 7:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early-onset pure hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Early-onset pure hereditary spastic paraplegia
- OMIM
- 611204
- Clinvar variants
- Variants in CCDC88C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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