Cerebellar hypoplasia
Gene: PMPCA
PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 11 panels
1 review
Alice Gardham (Genomics England)
Only reported in a small number of families. Can have childhood onset. Cerebellar hypoplasia and atrophy reportedCreated: 16 Nov 2016, 10:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 2 213200 AR
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 2 213200 AR
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary ataxia, adult onset
- Dystonia, chorea or related movement disorder, childhood onset
- Undiagnosed metabolic disorders
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
History Filter Activity
22 Feb 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
16 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
16 Nov 2016, Gel status: 0
Added New Source
Alice Gardham (Genomics England)PMPCA was added to Cerebellar hypoplasiapanel. Sources: Literature
16 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)PMPCA was created by agardham