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Inborn errors of metabolism

Gene: PMPCB

Green List (high evidence)

PMPCB (peptidase, mitochondrial processing beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105819
EnsemblGeneIds (GRCh37): ENSG00000105819
OMIM: 603131, Gene2Phenotype
PMPCB is in 7 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6, 617954
OMIM
603131
Clinvar variants
Variants in PMPCB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: PMPCB was added gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954