Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ACO2

No list

ACO2 (aconitase 2)
EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 12 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be the presenting feature.
Sources: Expert list
Created: 12 Sep 2020, 1:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile cerebellar-retinal degeneration, MIM#614559

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ACO2 was added gene: ACO2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 32519519 Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, MIM#614559 Review for gene: ACO2 was set to GREEN gene: ACO2 was marked as current diagnostic