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| Ataxia and cerebellar anomalies - narrow panel v4.37 | COQ4 | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | COQ4 | Eleanor Williams reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | COQ4 |
Achchuthan Shanmugasundram 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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| Ataxia and cerebellar anomalies - narrow panel v4.30 | COQ4 | Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Childhood-onset spinocerebellar ataxia; Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.29 | COQ4 | Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.5 | COQ4 |
Achchuthan Shanmugasundram Tag treatable tag was added to gene: COQ4. Tag Q4_22_promote_green tag was added to gene: COQ4. |
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| Ataxia and cerebellar anomalies - narrow panel v3.5 | COQ4 | Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Childhood onset ataxia to Childhood-onset spinocerebellar ataxia; Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.4 | COQ4 | Achchuthan Shanmugasundram Publications for gene: COQ4 were set to PMID: 30225196; 33704555; 30847826 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.3 | COQ4 | Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.3 | COQ4 | Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.2 | COQ4 | Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30225196, 30847826, 33215859, 33704555, 36047608; Phenotypes: Childhood-onset spinocerebellar ataxia, Adult-onset ataxia-spasticity spectrum disease, Hereditary spastic paraparesis, MONDO:0019064, Cerebellar ataxia, MONDO:0000437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.278 | COQ4 |
Dmitrijs Rots gene: COQ4 was added gene: COQ4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to PMID: 30225196; 33704555; 30847826 Phenotypes for gene: COQ4 were set to Childhood onset ataxia Penetrance for gene: COQ4 were set to Complete Review for gene: COQ4 was set to GREEN Added comment: The phenotype of COQ4 deficiency is very broad. In the three publications, at 6 individuals from 4 families are reported as having childhood onset ataxia. Sources: Literature |
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