Activity
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14 actions
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| Possible mitochondrial disorder, nuclear genes v4.26 | COQ5 | Ida Ertmanska changed review comment from: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitchondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update.; to: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitochondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.26 | COQ5 | Ida Ertmanska Phenotypes for gene: COQ5 were changed from No OMIM phenotype to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; mitochondrial disease, MONDO:0044970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.25 | COQ5 | Ida Ertmanska Publications for gene: COQ5 were set to 29044765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.24 | COQ5 | Ida Ertmanska Classified gene: COQ5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.24 | COQ5 | Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitchondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.24 | COQ5 | Ida Ertmanska Gene: coq5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.23 | COQ5 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: COQ5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v4.23 | COQ5 | Ida Ertmanska reviewed gene: COQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29044765, 36266294, 37599337, 41199775; Phenotypes: ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028, mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.146 | COQ5 | Ellen McDonagh Marked gene: COQ5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.146 | COQ5 | Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.146 | COQ5 | Ellen McDonagh Gene: coq5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.134 | COQ5 | Carl Fratter reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | COQ5 | Ivone Leong reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.4 | COQ5 |
Ivone Leong gene: COQ5 was added gene: COQ5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 29044765 Phenotypes for gene: COQ5 were set to No OMIM phenotype |
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