OPA1

OPA1, mitochondrial dynamin like GTPase
OMIM: 605290
PanelMode of inheritanceDetails
7 panels
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#125250:Optic atrophy plus syndrome, #165500:Optic atrophy 1, #606657:{Glaucoma, normal tension, susceptibility to}
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500, Behr syndrome, 210000, Optic atrophy plus syndrome, 125250
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, 125250, {Glaucoma, normal tension, susceptibility to}, 606657, Disorders of mitochondrial DNA maintenance and integrity, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Optic atrophy 1, 165500, Mitochondrial DNA Depletion Syndrome, Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Optic atrophy 1, 165500, {Glaucoma, normal tension, susceptibility to}, 606657, Optic atrophy plus syndrome, 125250, Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Optic atrophy 1, 165500
R-numbers: R352
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250
R-numbers: R41, R42.2
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Optic atrophy 1 165500, Optic atrophy plus syndrome 125250
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250