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  3. LRPPRC
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Paediatric or syndromic cardiomyopathy

Gene: LRPPRC

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

Created: 26 Nov 2019, 11:38 a.m.
Last Modified: 26 Nov 2019, 11:38 a.m.
Panel version: 0.13

Ivone Leong (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
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

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 1.67

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: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

8 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to LRPPRC. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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