LRPPRC

leucine rich pentatricopeptide repeat containing
OMIM: 607544
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 4.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111, LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
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)
R-numbers: R356
Signed-off version 3.20
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
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 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111