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BabyScreen+ newborn screening

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

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History Filter Activity

18 Sep 2022, Gel status: 1

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 gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III