Hereditary Spastic Paraplegia - adult onset
Gene: COQ7
COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 33215859: review of current and previous cohort finds three homozygous families with missense variants (p.(Leu111Pro) recurring, likely Iranian founder), with mod-severe progressive spastic paraplegia, moderate spastic paraparesis or moderate progressive spastic paraparesis .
- No supportive functional studies to validate missense variants.
Sources: LiteratureCreated: 5 Jan 2023, 4:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Publications
- PMID: 33215859
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
- OMIM
- 601683
- Clinvar variants
- Variants in COQ7
- Penetrance
- None
- Publications
-
- PMID: 33215859
- Panels with this gene
History Filter Activity
5 Jan 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: COQ7 was added gene: COQ7 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 33215859 Phenotypes for gene: COQ7 were set to Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Review for gene: COQ7 was set to RED