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  2. Ataxia and cerebellar anomalies - narrow panel
  3. PMPCB
Genes in panel
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Ataxia and cerebellar anomalies - narrow panel

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

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Neurodegeneration in Early Childhood. At least five variants reported in three unrelated cases, together with supportive functional studies (PMID 29576218).
Created: 11 May 2021, 4:33 p.m. | Last Modified: 11 May 2021, 4:33 p.m.
Panel Version: 2.172
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 11 May 2021, 4:28 p.m. | Last Modified: 11 May 2021, 4:28 p.m.
Panel Version: 2.172
Created: 11 May 2021, 4:28 p.m.
Last Modified: 11 May 2021, 4:33 p.m.
Panel version: 2.172

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Progressive disorder, includes ataxia. Four unrelated families reported.
Sources: Expert list
Created: 12 Sep 2020, 6:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Sep 2020, 6:49 a.m.

Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: PMPCB.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PMPCB. Source NHS GMS was added to PMPCB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PMPCB.

11 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PMPCB was added gene: PMPCB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list 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, MIM# 617954 Review for gene: PMPCB was set to GREEN gene: PMPCB was marked as current diagnostic