Possible mitochondrial disorder - nuclear genes
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- None
- 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
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PMPCA was added gene: PMPCA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCA were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200