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  2. Childhood onset hereditary spastic paraplegia
  3. CHMP3

Childhood onset hereditary spastic paraplegia

Gene: CHMP3

Red List (low evidence)
CHMP3 (charged multivesicular body protein 3)
EnsemblGeneIds (GRCh38): ENSG00000115561
EnsemblGeneIds (GRCh37): ENSG00000115561
OMIM: 610052, Gene2Phenotype
CHMP3 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment 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: Literature
Created: 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

Created: 10 May 2023, 2:33 p.m.

Panel version: 4.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Complex spastic quadriplegia associated with developmental delay and seizures
OMIM
610052
Clinvar variants
Variants in CHMP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2023, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chmp3 has been classified as Red List (Low Evidence).

10 May 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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