Hereditary ataxia
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Mutations with an association reported in two independent studies plus functional supporting evidence; PMID: 25808372 17 patients from 4 families, and PMID: 26657514 is a case study of two brothers. Is a green gene on the mitochondrial disorders gene panel.Created: 15 Feb 2016, 3:02 p.m.
Publications
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Single paper but four distinct families and functional evidenceCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Publications
- PMID:25808372
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- Complete
- Publications
-
- PMID:25808372
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PMPCA was created by jonathan.williams
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PMPCA was added to Hereditary ataxiapanel. Sources: Expert Review