Genes in panel

Neurodegenerative disorders - adult onset

Gene: PMPCA

Red List (low evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Childhood onset - red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Onset in infancy or in the first year of life
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • 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

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to PMPCA. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PMPCA.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PMPCA.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PMPCA.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PMPCA.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PMPCA was added gene: PMPCA was added to Neurodegenerative disorders - adult onset. 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.