Activity
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12 actions
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| Hereditary neuropathy or pain disorder v6.148 | COA7 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: COA7. Tag Q3_24_NHS_review was removed from gene: COA7. |
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| Hereditary neuropathy or pain disorder v6.148 | COA7 | Sarah Leigh commented on gene: COA7: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | COA7 |
Sarah Leigh Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.37 | COA7 | Sarah Leigh Phenotypes for gene: COA7 were changed from Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | COA7 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: COA7. Tag Q3_24_NHS_review tag was added to gene: COA7. |
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| Hereditary neuropathy or pain disorder v6.20 | COA7 | Sarah Leigh reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | COA7 | Alexander Rossor edited their review of gene: COA7: Added comment: Multiple additional cases now reported with peripheral neuropathy - should be green and on panle now that R78 includes complex phenotypes; Changed publications to: 29718187: 37264311: 35603692: 27683825 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.41 | COA7 | Louise Daugherty commented on gene: COA7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - ataxia with neuropathy / Broader phenotype - SCA with axonal neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.41 | COA7 | Louise Daugherty Classified gene: COA7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.41 | COA7 | Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.41 | COA7 | Louise Daugherty Gene: coa7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | COA7 |
Ellen McDonagh gene: COA7 was added gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 2971817 Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 |
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