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Cardiomyopathies - including childhood onset

Gene: LRPPRC

Green List (high evidence)

LRPPRC (leucine rich pentatricopeptide repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 11 panels

5 reviews

James Eden (Manchester)

I don't know

PMID 22045337: mouse model with tissue‐specific knockout of Lrpprc in heart and skeletal muscle. Dramatically shortened lifespan with progressive enlargement of the heart.
Created: 26 Nov 2019, 11:38 a.m. | Last Modified: 26 Nov 2019, 11:38 a.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome, French-Canadian type, 220111

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. Gene Symbol submitted: LRPPRC; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome, French-Canadian type, 220111

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

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)

Green List (high evidence)

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LRPPRC were set to

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: LRPPRC was added gene: LRPPRC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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