Possible mitochondrial disorder - nuclear genes
Gene: LRPPRC
LRPPRC (leucine rich pentatricopeptide repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 10 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, French-Canadian type, 220111
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Leigh syndrome, French-Canadian type, 220111
- OMIM
- 607544
- Clinvar variants
- Variants in LRPPRC
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Undiagnosed metabolic disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LRPPRC was added gene: LRPPRC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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