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  3. PMPCB
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Mitochondrial disorders

Gene: PMPCB

Green List (high evidence)
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: 1.346

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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

23 May 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, 617954

23 May 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PMPCB were set to

23 May 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal

23 May 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

21 May 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: PMPCB was added gene: PMPCB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PMPCB was set to