Genomics England

LRPPRC

leucine rich pentatricopeptide repeat containing

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, French-Canadian type, 220111, LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Green in Likely inborn error of metabolism 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 7.0	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)
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.20	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, French-Canadian type, 220111
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	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
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, French-Canadian type, 220111