Genomics England
GMS Panels
Panels
Genes and Entities

CLPP

caseinolytic mitochondrial matrix peptidase proteolytic subunit
OMIM: 601119
PanelMode of inheritanceDetails
4 panels
Green
in Inborn errors of metabolism
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
Perrault syndrome 3, 614129
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 3, 614129
Green
in Monogenic hearing loss
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614129:Perrault syndrome 3
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 3, 614129