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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ACO2 |
Eleanor Williams Tag Q2_21_rating was removed from gene: ACO2. Tag Q2_22_MOI was removed from gene: ACO2. |
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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ACO2 | Eleanor Williams reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | ACO2 |
Eleanor Williams Source Expert Review Green was added to ACO2. 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 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.295 | ACO2 | Sarah Leigh commented on gene: ACO2: PMID: 34056600 reports 61 cases of genetically unsolved inherited optic neuropathies who were harbouring variants in ACO2, of which 50 carried dominant variants (the remaining 11 cases were biallelic). The authors state that this is the first report of monoallelic pathogenic ACO2 variants resulting in dominant optic atrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.295 | ACO2 | Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.295 | ACO2 | Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.54 | ACO2 | Arina Puzriakova Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, MIM#614559 to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.53 | ACO2 | Arina Puzriakova Publications for gene: ACO2 were set to 32519519 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.52 | ACO2 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.52 | ACO2 | Arina Puzriakova Classified gene: ACO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.52 | ACO2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene should be promoted to Green at the next GMS panel update. Sufficient unrelated cases to ascertain causation (see publications list). Childhood-onset ataxia often reported as a core feature of the disease presentation, particularly in milder cases. Both episodic and classic forms have been described. |
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| Ataxia and cerebellar anomalies - narrow panel v2.52 | ACO2 | Arina Puzriakova Gene: aco2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | ACO2 |
Zornitza Stark 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 Added comment: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be the presenting feature. Sources: Expert list |
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