PanelApp
  1. Genes and Genomic Entities
  2. MRPS22

MRPS22

mitochondrial ribosomal protein S22
OMIM: 605810, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MRPS22 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 5 MIM#611719
  • Ovarian dysgenesis 7 MIM#618117

Green MRPS22 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 Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 5, MIM# 611719

    Green MRPS22 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MRPS22 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Combined oxidative phosphorylation deficiency 5 MIM#611719

    Green MRPS22 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    		1 review Unknown
    Sources
    • Expert Review Green
    • Genetic Health QLD

    Green MRPS22 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 5 , MIM#611719
    • hypertrophic or dilated cardiomyopathy
    • microcephaly
    • hypotonia
    • spastic tetraplegia
    • abnormal brain MRI

    Red MRPS22 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Mitochondrial respiratory chain disorder

    Green MRPS22 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Combined oxidative phosphorylation deficiency 5 (MIM#611719)

    Red MRPS22 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Mitochondrial respiratory chain disorder

    Amber MRPS22 in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ovarian dysgenesis 7, MIM# 618117