OPA1

OPA1, mitochondrial dynamin like GTPase
OMIM: 605290, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red OPA1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes {Glaucoma, normal tension, susceptibility to}, OMIM:606657
Green OPA1 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000
Green OPA1 in Auditory Neuropathy Spectrum Disorde Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250
Green OPA1 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000
Green OPA1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250
Green OPA1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000
Red OPA1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250
Red OPA1 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes {Glaucoma, normal tension, susceptibility to}, OMIM:606657 Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000
Green OPA1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000
Red OPA1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green OPA1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Behr syndrome, 210000 Optic atrophy 1, 165500 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 Optic atrophy plus syndrome, 125250