| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.4 | COQ2 | Bryony Thompson Marked gene: COQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.4 | COQ2 | Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.4 | COQ2 | Bryony Thompson Classified gene: COQ2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.4 | COQ2 | Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.3 | COQ2 |
Bryony Thompson gene: COQ2 was added gene: COQ2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 39152783; 30242188; 25672683; 23758206 Phenotypes for gene: COQ2 were set to multiple system atrophy, MONDO:0007803 Review for gene: COQ2 was set to AMBER Added comment: COQ2 encodes a key enzyme in coenzyme Q10 biosynthesis and is implicated in multiple system atrophy (MSA). Multiple system atrophy, autosomal recessive – early‑onset Parkinsonism, cerebellar ataxia and autonomic dysfunction. Five independent families (6 reported patients) carry biallelic COQ2 variants (nonsense and missense) reported in PMID 30242188, 23758206, 25672683; iPSC‑derived neuronal rescue and yeast complementation support pathogenicity. But only 2 families were without a common missense V393A, which is present at a frequency of 2% in the East Asian population. Multiple system atrophy, autosomal dominant – Parkinsonian type, early‑onset. Five affected individuals from a single pedigree harbour a heterozygous p.Ala301Thr missense variant (PMID 39152783); segregation across three generations is demonstrated, but no functional validation is available. Multiple system atrophy risk allele – heterozygous COQ2 missense variants (including V393A) identified in a case‑control cohort of 758 patients (PMID 25672683). The high carrier frequency (3.3 % in controls) and lack of segregation indicate a susceptibility rather than a Mendelian disease. Sources: Literature |
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