1. Panels
  2. Mitochondrial disorders
  3. LRPPRC
Genes in panel
Prev Next
STRs in panel
Prev Next

Mitochondrial disorders

Gene: LRPPRC

Green List (high evidence)
LRPPRC (leucine rich pentatricopeptide repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 10 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

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.
Created: 8 Feb 2016, 1:54 p.m.

Panel version: 0.47

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leigh syndrome, French-Canadian type, 220111
  • Mitochondrial Diseases
OMIM
607544
Clinvar variants
Variants in LRPPRC
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to LRPPRC. Panel: Mitochondrial disorders

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LRPPRC were set to Isolated complex IV deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases

8 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LRPPRC was changed to BIALLELIC, autosomal or pseudoautosomal

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory