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Likely inborn error of metabolism - targeted testing not possible v3.6 | ACO2 | Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | ACO2 | Achchuthan Shanmugasundram commented on gene: ACO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible 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 |
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Likely inborn error of metabolism - targeted testing not possible v2.257 | ACO2 | Sarah Leigh Tag Q2_22_NHS_review was removed from gene: ACO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible 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 |
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Likely inborn error of metabolism - targeted testing not possible 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. |
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Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible v2.257 | ACO2 | Sarah Leigh Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ACO2 | Ellen McDonagh Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible 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 |