Genomics England
GMS Panels
Panels
Genes and Entities

ACO2

aconitase 2
OMIM: 100850
PanelMode of inheritanceDetails
8 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 4.40
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 3.79
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 5.343
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 - targeted testing not possible
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 4.78
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 4.114
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 3.69
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559