Mitochondrial disease
Gene: PMPCA
PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood.
More than 5 families reported.Created: 24 Apr 2022, 8:27 a.m. | Last Modified: 24 Apr 2022, 8:27 a.m.
Panel Version: 0.13248
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PMPCA was added gene: PMPCA was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: PMPCA was set to Unknown