Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: PMPCA

Green List (high evidence)

PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green, to match Green rating on Hereditary ataxia v1.148 panel.
Created: 20 Dec 2018, 12:57 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2 213200 AR
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
OMIM
613036
Clinvar variants
Variants in PMPCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

20 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pmpca has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 1

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Red was added to PMPCA. Added phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR for gene: PMPCA Publications for gene PMPCA were changed from PMID:25808372 to PubMed: 10528257, 25808372 Rating Changed from Green List (high evidence) to Red List (low evidence)

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PMPCA was added gene: PMPCA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID:25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.