Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | PIEZO2 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: PIEZO2. Tag Q3_24_NHS_review was removed from gene: PIEZO2. |
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| Hereditary neuropathy or pain disorder v6.148 | PIEZO2 | Sarah Leigh reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | PIEZO2 |
Sarah Leigh Source NHS GMS was added to PIEZO2. Source Expert Review Green was added to PIEZO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.3 | PIEZO2 | Arina Puzriakova Publications for gene: PIEZO2 were set to 27653382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.2 | PIEZO2 | Arina Puzriakova Classified gene: PIEZO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.2 | PIEZO2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variants cause distal arthrogryposis with impaired proprioception and touch. Mild sensory axonal neuropathy has been reported in some individuals (PMID: 27653382; 27843126; 27974811). Sufficient unrelated cases to promote this gene to Green at the next GMS panel update. Neuropathy is not a feature of dominant phenotypes associated with PIEZO2. |
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| Hereditary neuropathy or pain disorder v6.2 | PIEZO2 | Arina Puzriakova Gene: piezo2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.1 | PIEZO2 |
Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PIEZO2. Tag Q3_24_NHS_review tag was added to gene: PIEZO2. |
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| Hereditary neuropathy or pain disorder v5.107 | PIEZO2 | Arina Puzriakova Phenotypes for gene: PIEZO2 were changed from arthrodryposis; sensory neuropathy to Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | PIEZO2 |
Alexander Rossor gene: PIEZO2 was added gene: PIEZO2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 27653382 Phenotypes for gene: PIEZO2 were set to arthrodryposis; sensory neuropathy Penetrance for gene: PIEZO2 were set to Complete Review for gene: PIEZO2 was set to GREEN Added comment: Sources: Expert list |
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