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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. PMPCA
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PMPCA

Red List (low evidence)
PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

RP is not a feature of this condition.
Created: 7 Feb 2020, 10:56 a.m. | Last Modified: 7 Feb 2020, 10:56 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 2 MIM#213200

Created: 7 Feb 2020, 10:56 a.m.
Last Modified: 7 Feb 2020, 10:56 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2
OMIM
613036
Clinvar variants
Variants in PMPCA
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PMPCA was added gene: PMPCA was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2