PanelApp
  1. Genes and Genomic Entities
  2. MRPS14

MRPS14

mitochondrial ribosomal protein S14
OMIM: 611978, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MRPS14 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 38, MIM# 618378
  • perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability

Amber MRPS14 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 38, MIM# 618378

    Red MRPS14 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 38, MIM# 618378
    • hypertrophic cardiomyopathy
    • growth retardation
    • hypotonia
    • intellectual disability