Activity
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2 actions
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| Hereditary neuropathy or pain disorder v0.86 | SCN10A | Louise Daugherty edited their review of gene: SCN10A: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Episodic pain syndrome - within scope of panel? 2 cases het missense variants (1 segregating in 2 family members) and functional evidence in OMIM - sufficient for Green if within scope? If SCN9A is on the panel then this and similar genes should be on too. Recommend Green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | SCN9A |
Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 26392352 Phenotypes for gene: SCN9A were set to Hereditary Neuropathies |
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