Mitochondrial disorders
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)
Comment on list classification: 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.Created: 15 Feb 2016, 3 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- non-progressive cerebellar ataxia
- slowly progressive cerebellar ataxia
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- Complete
- Publications
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to PMPCA. Panel: Mitochondrial disorders
15 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Feb 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PMPCA were set to non-progressive cerebellar ataxia; slowly progressive cerebellar ataxia
15 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Feb 2016, Gel status: 0
Added New Source
Shamima Rahman (UCL Institute of Child Health)PMPCA was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
7 Feb 2016, Gel status: 0
Created
Shamima Rahman (UCL Institute of Child Health)PMPCA was created by [email protected]