Likely inborn error of metabolism - targeted testing not possible
Gene: LRPPRC
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 8 Feb 2016, 1:54 p.m.
Comment on list classification: Confirmed DD gene for Leigh syndrome.Created: 8 Feb 2016, 1:54 p.m.
Source NHS GMS was added to LRPPRC. Source London North GLH was added to LRPPRC.
Ellen McDonagh: Comment on mode of pathogenici
Added 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) for gene: LRPPRC Publications for gene LRPPRC were changed from to 27604308
gene: LRPPRC was added gene: LRPPRC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency