PMPCB

peptidase, mitochondrial processing beta subunit
OMIM: 603131
PanelMode of inheritanceDetails
5 panels
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785