| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.6 | COQ7 | Bryony Thompson Marked gene: COQ7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.6 | COQ7 | Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.6 | COQ7 | Bryony Thompson Classified gene: COQ7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.6 | COQ7 | Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.5 | COQ7 |
Bryony Thompson gene: COQ7 was added gene: COQ7 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 37170631; 36759155; 36758993 Phenotypes for gene: COQ7 were set to primary coenzyme Q10 deficiency 8, MONDO:0014754 Review for gene: COQ7 was set to GREEN Added comment: Three independent studies report a total of 12 families with biallelic COQ7 loss‑of‑function variants causing distal hereditary motor neuropathy (dHMN), an autosomal recessive motor neuron disorder presenting from early childhood to adolescence with progressive distal weakness, pes cavus and, in many cases, upper‑motor‑neuron signs. PMID 36758993 described two Chinese families with compound heterozygous splice‑site and missense variants; PMID 36759155 added a third family homozygous for a start‑codon variant and confirmed the Chinese families; PMID 37170631 identified nine additional families, several of which carry the recurrent c.3G>T allele. Functional studies show COQ7 deficiency in patient fibroblasts and iPSC‑derived motor neurons and rescue of cellular stress with coenzyme‑Q10 supplementation, supporting pathogenicity. The phenotype aligns with the Motor Neurone Disease panel’s scope of motor‑neuron degeneration, making COQ7 a suitable diagnostic‑grade gene for inclusion. Sources: Literature |
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