MRPS22

Green MRPS22 in Mendeliome

Version 1.1891

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 0.927

Component of the following Super Panels:

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 0.522

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Green MRPS22 in Intellectual disability syndromic and non-syndromic

Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

Sources

• Genetic Health Queensland
• Expert Review Green

Green MRPS22 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

Sources

• Expert Review Green
• Genetic Health QLD

Green MRPS22 in Cardiomyopathy_Paediatric

Level 2: Cardiovascular disorders
Version 0.192

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

Sources

• Expert Review Red
• BabySeq Category C gene

Phenotypes

• Mitochondrial respiratory chain disorder

Green MRPS22 in Fetal anomalies

Version 1.255

Sources

• Expert Review Green
• Genomics England PanelApp

Phenotypes

• Combined oxidative phosphorylation deficiency 5 (MIM#611719)

Red MRPS22 in BabyScreen+ newborn screening

Level 2: Screening
Version 1.113

Sources

• BabySeq Category C gene
• Expert Review Red

Phenotypes

• Mitochondrial respiratory chain disorder