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Additional findings_Paediatric

Gene: OPA3

Red List (low evidence)

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

0 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OPA3 was added gene: OPA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III