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Likely inborn error of metabolism v3.6 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Likely inborn error of metabolism v3.6 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Likely inborn error of metabolism v3.5 ACO2 Achchuthan Shanmugasundram Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.257 ACO2 Sarah Leigh Tag Q2_22_NHS_review was removed from gene: ACO2.
Likely inborn error of metabolism v2.257 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Likely inborn error of metabolism v2.257 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Tag Q2_22_NHS_review tag was added to gene: ACO2.
Likely inborn error of metabolism v2.257 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.257 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Likely inborn error of metabolism v0.4 ACO2 Ellen McDonagh Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2
Likely inborn error of metabolism v0.4 ACO2 Ellen McDonagh gene: ACO2 was added
gene: ACO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559