PMPCA

peptidase, mitochondrial processing alpha subunit
OMIM: 613036
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 2 213200 AR, Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 2, 213200, Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
slowly progressive cerebellar ataxia, non-progressive cerebellar ataxia
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
non-progressive cerebellar ataxia, slowly progressive cerebellar ataxia
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200