OPA3

OPA3, outer mitochondrial membrane lipid metabolism regulator
OMIM: 606580
PanelMode of inheritanceDetails
11 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
3-methylglutaconic aciduria, type III, 258501, autosomal dominant optic atrophy with cataract (ADOAC)
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 3 with cataract, 165300, 3-methylglutaconic aciduria, type III, 258501, 3-methylglutaconic aciduria type III, 258501, Costeff syndrome
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501, Costeff syndrome
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, autosomal or pseudoautosomal
Phenotypes
Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias), 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Cognitive regression
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
R-numbers: R41
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract
R-numbers: R63
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300