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Regression

Gene: ACO2

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental regression is part of the phenotype.
Created: 17 Aug 2022, 3:54 a.m. | Last Modified: 17 Aug 2022, 3:54 a.m.
Panel Version: 0.489

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile cerebellar-retinal degeneration, MIM#614559

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Infantile cerebellar-retinal degeneration, MIM#614559
OMIM
100850
Clinvar variants
Variants in ACO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aco2 has been classified as Green List (High Evidence).

17 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559

17 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACO2 were set to

17 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACO2 was added gene: ACO2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACO2 was set to Unknown