Genomics England

OPA3

OPA3, outer mitochondrial membrane lipid metabolism regulator

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 3-methylglutaconic aciduria, type III, 258501, autosomal dominant optic atrophy with cataract (ADOAC)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.11	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
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Optic atrophy 3 with cataract, OMIM:165300, optic atrophy 3, MONDO:0008133
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Cognitive regression
Green in Likely inborn error of metabolism 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 7.13	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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.40	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300