Genomics England
GMS Panels
Panels
Genes and Entities

ACO2

aconitase 2
OMIM: 100850
PanelMode of inheritanceDetails
6 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
Green
in Intellectual disability
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
Infantile cerebellar-retinal degeneration, OMIM:614559, Infantile cerebellar-retinal degeneration, MONDO:0013802
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 3.1
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
Green
in Retinal disorders
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559