PanelApp (staging)
  1. Genes and Genomic Entities
  2. MRPS28

MRPS28

mitochondrial ribosomal protein S28
OMIM: 611990, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MRPS28 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Intrauterine growth retardation
  • developmental delay
  • dysmorphism

Red MRPS28 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Intrauterine growth retardation
    • developmental delay
    • dysmorphism
    • Combined oxidative phosphorylation deficiency 47, MIM618958