Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Possible mitochondrial disorder - nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Possible mitochondrial disorder - nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Possible mitochondrial disorder - nuclear genes v2.4 ACO2 Achchuthan Shanmugasundram Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Possible mitochondrial disorder - nuclear genes v1.80 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
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Possible mitochondrial disorder - nuclear genes v0.5 ACO2 Ivone Leong reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile cerebellar-retinal degeneration, 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.2 ACO2 Ivone Leong gene: ACO2 was added
gene: ACO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
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