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| Hereditary neuropathy or pain disorder v3.79 | COQ7 | Achchuthan Shanmugasundram Classified gene: COQ7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.79 | COQ7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.79 | COQ7 | Achchuthan Shanmugasundram Gene: coq7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.78 | COQ7 | Achchuthan Shanmugasundram Phenotypes for gene: COQ7 were changed from autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) to Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.77 | COQ7 | Achchuthan Shanmugasundram Publications for gene: COQ7 were set to PMID: 36758993; 37077559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.76 | COQ7 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: COQ7. Tag Q1_24_NHS_review tag was added to gene: COQ7. |
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| Hereditary neuropathy or pain disorder v3.76 | COQ7 |
Achchuthan Shanmugasundram changed review comment from: PMID:36454683 reported three siblings of Portuguese decent with distal hereditary motor neuropathy and identified with a homozygous COQ7 variant that disrupted the start codon of the main COQ7 isoform 1 (c.3G-T). PMID:36758993 reported two unrelated males of Chinese decent, who developed slowly progressive distal muscle weakness and atrophy at 14 to 15 years of age. They were identified with compound heterozygous variants in COQ7 gene (family 1: c.253-2A-T/ p.Leu156Gln & c.467T-A/ p.Leu156Gln; family 2: c.160C-T/ p.Arg54Trp & c.467T-G/ p.Leu156Arg). PMID:3707755 reported three siblings of Syrian decent who presented with progressive distal limb muscle weakness and atrophy due to a length-dependent peripheral motor neuropathy. They were identified with a homozygous COQ7 variant (c.1A-G). This gene has been associated with relevant phenotype in OMIM (MIM #620402), but not in Gene2Phenotype.; to: PMID:36454683 reported three siblings of Portuguese decent with distal hereditary motor neuropathy and identified with a homozygous COQ7 variant that disrupted the start codon of the main COQ7 isoform 1 (c.3G-T). PMID:36758993 reported two unrelated males of Chinese decent, who developed slowly progressive distal muscle weakness and atrophy at 14 to 15 years of age. They were identified with compound heterozygous variants in COQ7 gene (family 1: c.253-2A-T/ p.Leu156Gln & c.467T-A/ p.Leu156Gln; family 2: c.160C-T/ p.Arg54Trp & c.467T-G/ p.Leu156Arg). PMID:37077559 reported three siblings of Syrian decent who presented with progressive distal limb muscle weakness and atrophy due to a length-dependent peripheral motor neuropathy. They were identified with a homozygous COQ7 variant (c.1A-G). This gene has been associated with relevant phenotype in OMIM (MIM #620402), but not in Gene2Phenotype. |
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| Hereditary neuropathy or pain disorder v3.76 | COQ7 | Achchuthan Shanmugasundram edited their review of gene: COQ7: Changed publications to: 36454683, 36758993, 37077559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.76 | COQ7 | Achchuthan Shanmugasundram reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36454683, 36758993, 3707755; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.74 | COQ7 | Lucy Jackson edited their review of gene: COQ7: Changed publications to: 36758993, 37077559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.74 | COQ7 |
Lucy Jackson gene: COQ7 was added gene: COQ7 was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 36758993; 37077559 Phenotypes for gene: COQ7 were set to autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) Review for gene: COQ7 was set to GREEN Added comment: This gene is associated with autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) Sources: NHS GMS |
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