OPA1

OPA1, mitochondrial dynamin like GTPase
OMIM: 605290
PanelMode of inheritanceDetails
7 panels
R-numbers: R54
Signed-off version 3.1
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 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896, mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820, Optic atrophy 1 OMIM:165500, autosomal dominant optic atrophy, classic form MONDO:0008134, Optic atrophy plus syndrome OMIM:125250, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429, Behr syndrome OMIM:210000, Behr syndrome MONDO:0008858
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896, mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820, Optic atrophy 1 OMIM:165500, autosomal dominant optic atrophy, classic form MONDO:0008134, Optic atrophy plus syndrome OMIM:125250, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429, Behr syndrome OMIM:210000, Behr syndrome MONDO:0008858
R-numbers: R352
Signed-off version 2.1
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: R67
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#125250:Optic atrophy plus syndrome, #165500:Optic atrophy 1, #606657:{Glaucoma, normal tension, susceptibility to}
R-numbers: R41
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Optic atrophy 1 165500, Optic atrophy plus syndrome 125250
R-numbers: R63
Signed-off version 2.2
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