Hereditary ataxia with onset in adulthood
Gene: PMPCB

PMPCB (peptidase, mitochondrial processing beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105819
EnsemblGeneIds (GRCh37): ENSG00000105819
OMIM: 603131, Gene2Phenotype
PMPCB is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Four families reported in paper all homozygous or compound heterozygous for missense variants. Functional evidence provided using yeast expression
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 6, 617954

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785

OMIM

603131

Clinvar variants

Variants in PMPCB

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785

27 Apr 2019, Gel status: 3