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  2. Ataxia - paediatric
  3. PMPCB
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Ataxia - paediatric

Gene: PMPCB

Green List (high evidence)
PMPCB (peptidase, mitochondrial processing beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105819
EnsemblGeneIds (GRCh37): ENSG00000105819
OMIM: 603131, Gene2Phenotype
PMPCB is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive disorder, includes ataxia. Four unrelated families reported.
Created: 17 Apr 2020, 2:51 a.m. | Last Modified: 17 Apr 2020, 2:51 a.m.
Panel Version: 0.172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954

Publications

Created: 17 Apr 2020, 2:51 a.m.
Last Modified: 17 Apr 2020, 2:51 a.m.
Panel version: 0.172

Details

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

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMPCB were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PMPCB was added gene: PMPCB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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