Hypertrophic cardiomyopathy - teen and adult

Gene: MRPL3

Red List (low evidence)

MRPL3 (mitochondrial ribosomal protein L3)
EnsemblGeneIds (GRCh38): ENSG00000114686
EnsemblGeneIds (GRCh37): ENSG00000114686
OMIM: 607118, Gene2Phenotype
MRPL3 is in 5 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Combined oxidative phosphorylation deficiency 9 (614582)
Created: 25 Mar 2019, 4:30 p.m.
HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
OMIM
607118
Clinvar variants
Variants in MRPL3
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MRPL3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list