OPA3

OPA3, outer mitochondrial membrane lipid metabolism regulator
OMIM: 606580, Gene2Phenotype

23 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Red OPA3 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Red OPA3 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green OPA3 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome
Green OPA3 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Costeff syndrome 3-methylglutaconic aciduria, type III, 258501
Green OPA3 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type III, 258501 autosomal dominant optic atrophy with cataract (ADOAC)
Green OPA3 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Other Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome
Green OPA3 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome
Green OPA3 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Autosomal Dominant Optic Atrophy optic atrophy and cataracts Optic atrophy 3 with cataract
Green OPA3 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Literature Expert Review Green Other Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome
Green OPA3 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
Red OPA3 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Costeff syndrome 3-methylglutaconic aciduria, type III, 258501
Green OPA3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green OPA3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green OPA3 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300
Green OPA3 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
Green OPA3 in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Cognitive regression
Green OPA3 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green OPA3 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 3-methylglutaconic aciduria type III, 258501 Costeff syndrome
Red OPA3 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Autosomal Dominant Optic Atrophy Eye Disorders
Red OPA3 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Phenotypes Optic atrophy 3 with cataract, 165300 Eye Disorders
Red OPA3 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome
Green OPA3 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Optic atrophy 3 with cataract, OMIM:165300 optic atrophy 3, MONDO:0008133
Green OPA3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501

OPA3

23 panels

Red OPA3 in Hyperammonaemia

Sources

Red OPA3 in Glaucoma (developmental)

Sources

Phenotypes

Green OPA3 in Parkinson Disease and Complex Parkinsonism

Sources

Phenotypes

Green OPA3 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green OPA3 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green OPA3 in Hereditary ataxia

Sources

Phenotypes

Green OPA3 in Hereditary spastic paraplegia

Sources

Phenotypes

Green OPA3 in Optic neuropathy

Sources

Phenotypes

Green OPA3 in Childhood onset hereditary spastic paraplegia

Sources

Phenotypes

Green OPA3 in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Red OPA3 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green OPA3 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green OPA3 in Likely inborn error of metabolism

Sources

Phenotypes

Green OPA3 in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Green OPA3 in Hereditary neuropathy

Sources

Phenotypes

Green OPA3 in Intellectual disability

Sources

Phenotypes

Green OPA3 in Mitochondrial disorders

Sources

Phenotypes

Green OPA3 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Red OPA3 in Retinal disorders

Sources

Phenotypes

Red OPA3 in Structural eye disease

Sources

Phenotypes

Red OPA3 in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green OPA3 in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Green OPA3 in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes