LRPPRC

leucine rich pentatricopeptide repeat containing
OMIM: 607544, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green LRPPRC in Mendeliome Version 1.2789	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Green LRPPRC in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.169 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111)
Green LRPPRC in Mitochondrial disease Level 2: Metabolic disorders Version 0.986 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green LRPPRC in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.582	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LRPPRC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.203	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111
Green LRPPRC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, French-Canadian type, 220111 (3)
Green LRPPRC in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.200	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Leigh syndrome, French-Canadian type, 220111
Green LRPPRC in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leigh syndrome
Amber LRPPRC in Fetal anomalies Version 1.378	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Green LRPPRC in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Red LRPPRC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Green LRPPRC in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3)