Hereditary ataxia

Gene: PMPCA

Green List (high evidence)

PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

Fine. Single paper but four distinct families and functional evidence
Created: 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

Variants in this GENE are reported as part of current diagnostic practice

Details

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