Mitochondrial disease
Gene: LRPPRCEnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Onset in infancy, microcephaly and HCM are features.Created: 1 Feb 2022, 10:35 p.m. | Last Modified: 1 Feb 2022, 10:35 p.m.
Panel Version: 0.10823
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Ain Roesley (Victorian Clinical Genetics Services)
Established gene-disease association
Onset in infancy and death usually occurs by age 2 yearsCreated: 30 Jan 2022, 10:59 p.m. | Last Modified: 30 Jan 2022, 11 p.m.
Panel Version: 0.10812
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 607544
- Clinvar variants
- Variants in LRPPRC
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRPPRC was added gene: LRPPRC was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LRPPRC was set to Unknown