PanelApp (test)
  1. Genes and Genomic Entities
  2. MRPS14

MRPS14

mitochondrial ribosomal protein S14
OMIM: 611978, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MRPS14 in Mendeliome


Version 2.0

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 2.0

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 1.0

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