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  3. PMPCB
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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 4 unrelated families/patients
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 2:04 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 4:40 p.m.
Created: 29 Mar 2019, 4:40 p.m.

Panel version: 0.117

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2019, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PMPCB were set to

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pmpcb has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PMPCB was added gene: PMPCB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCB were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954