Additional findings_Paediatric
Gene: OPA3

OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 19 panels

0 reviews

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
BabySeq Category C gene
BabySeq Category A gene

Phenotypes

Optic atrophy 3 with cataract
3-methylglutaconic aciduria, type III

OMIM

606580

Clinvar variants

Variants in OPA3

Penetrance

None

Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to OPA3. Source Expert Review Red was added to OPA3. Mode of inheritance for gene OPA3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Optic atrophy 3 with cataract for gene: OPA3 Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes