Childhood onset hereditary spastic paraplegia
Gene: CHMP3Comment on list classification: Rating Red for now as only a single case has been reported to date.Created: 10 May 2023, 2:34 p.m. | Last Modified: 10 May 2023, 2:34 p.m.
Panel Version: 4.8
Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3.
Sources: LiteratureCreated: 10 May 2023, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex spastic quadriplegia associated with developmental delay and seizures
Publications
Gene: chmp3 has been classified as Red List (Low Evidence).
gene: CHMP3 was added gene: CHMP3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP3 were set to 35710109 Phenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures