Cerebellar hypoplasia


Red List (low evidence)

PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 12 panels

1 review

Alice Gardham (Genomics England)

Only reported in a small number of families. Can have childhood onset. Cerebellar hypoplasia and atrophy reported
Created: 16 Nov 2016, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Spinocerebellar ataxia, autosomal recessive 2 213200 AR


History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

16 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

16 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

PMPCA was added to Cerebellar hypoplasiapanel. Sources: Literature

16 Nov 2016, Gel status: 0


Alice Gardham (Genomics England)

PMPCA was created by agardham