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| Adult onset hereditary spastic paraplegia v3.19 | COQ4 | Sarah Leigh Tag Q4_22_promote_green was removed from gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.19 | COQ4 | Sarah Leigh reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.18 | COQ4 |
Sarah Leigh Source Expert Review Green was added to COQ4. Source NHS GMS was added to COQ4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v3.17 | COQ4 | Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.16 | COQ4 | Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.3 | COQ4 | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.3 | COQ4 | Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.3 | COQ4 | Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.2 | COQ4 |
Achchuthan Shanmugasundram gene: COQ4 was added gene: COQ4 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 36047608 Phenotypes for gene: COQ4 were set to Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 Review for gene: COQ4 was set to GREEN Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in adult onset hereditary spastic paraplegia, as identified from biallelic variants from three unrelated individuals. Six patients from four families with bi-allelic variants were reported with adult-Onset ataxia-spasticity spectrum phenotype. Out of these, three patients (c.305G>A & c.473G>A, c.434G>A & c.437T>G, c.376G>A & c.473G>A) were identified with hereditary spastic paraparesis and their age of onset ranged from 15 to 24 (PMID:36047608). COQ4 was not associated with hereditary spastic paraparesis in OMIM or Gene2Phenotype. However, functional studies performed in patient-derived fibroblasts, yeasts and zebrafish larvae confirms the role of COQ4 in brain development. The coq4 F0 CRISPR zebrafish line particularly showed motor defects and cell reduction in a specific area of the hindbrain, a region reminiscent of the human cerebellum (PMID:33704555). Sources: Literature |
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