LRPPRC

leucine rich pentatricopeptide repeat containing
OMIM: 607544
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111
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
Leigh syndrome, French-Canadian type, 220111, Mitochondrial Diseases, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111, LEIGH SYNDROME, FRENCH-CANADIAN TYPE
R-numbers: R356
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Leigh syndrome, French-Canadian type, 220111, Mitochondrial Diseases
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111