OPA1

OPA1, mitochondrial dynamin like GTPase
OMIM: 605290
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
R-numbers: R54
Signed-off version 5.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
R-numbers: R78
Signed-off version 4.11
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
R-numbers: R352
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250
R-numbers: R41
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
R-numbers: R63
Signed-off version 3.105
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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