Regression
Gene: CHMP3EnsemblGeneIds (GRCh38): ENSG00000115561
EnsemblGeneIds (GRCh37): ENSG00000115561
OMIM: 610052, Gene2Phenotype
CHMP3 is in 4 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
PMID: 35710109
- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia.
- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy.
Sources: LiteratureCreated: 14 Jul 2022, 1:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related
Publications
- PMID: 35710109
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related
- OMIM
- 610052
- Clinvar variants
- Variants in CHMP3
- Penetrance
- None
- Publications
-
- PMID: 35710109
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: CHMP3 was added gene: CHMP3 was added to Regression. Sources: Literature Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP3 were set to PMID: 35710109 Phenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Review for gene: CHMP3 was set to AMBER gene: CHMP3 was marked as current diagnostic