Likely inborn error of metabolism
Gene: PMPCB

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

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 4 unrelated families/patients.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 3:01 p.m.

Created: 23 May 2019, 3:01 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.346

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

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

OMIM

603131

Clinvar variants

Variants in PMPCB

Penetrance

None

Publications

29576218

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

6 Aug 2019, Gel status: 3

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