Genomics England

ACO2

aconitase 2

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559, Infantile cerebellar-retinal degeneration, MONDO:0013802
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559, Infantile cerebellar-retinal degeneration, MONDO:0013802
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 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, 614559
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, 614559
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559, Infantile cerebellar-retinal degeneration, MONDO:0013802, ?Optic atrophy 9, OMIM:616289, Optic atrophy 9, MONDO:0014571
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, 614559
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Infantile cerebellar-retinal degeneration, 614559