Activity
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| Hereditary neuropathy or pain disorder v6.148 | PLA2G6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: PLA2G6. Tag Q3_24_NHS_review was removed from gene: PLA2G6. |
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| Hereditary neuropathy or pain disorder v6.148 | PLA2G6 | Sarah Leigh reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | PLA2G6 |
Sarah Leigh Source NHS GMS was added to PLA2G6. Source Expert Review Green was added to PLA2G6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.6 | PLA2G6 | Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation; peripheral neuropathy to Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Infantile neuroaxonal dystrophy 1, OMIM:256600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.5 | PLA2G6 | Arina Puzriakova Publications for gene: PLA2G6 were set to 18443314: 16783378: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.4 | PLA2G6 | Arina Puzriakova Classified gene: PLA2G6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.4 | PLA2G6 | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variant in PLA2G6 are associated with multiple neurodegenerative phenotypes with overlapping clinical and radiologic features including Infantile neuroaxonal dystrophy (MIM# 256600), Neurodegeneration with brain iron accumulation (MIM# 610217) and Parkinson disease (MIM# 612953). Although not universal, progressive motor axonal neuropathy has been reported as an early feature in multiple patients harbouring PLA2G6 variants (PMID: 18443314; 25164370; 27882168; 29859652; 30340910). Neuropathy can present earlier than other typical features such as iron accumulation in the brain and has represented the main diagnostic feature in some cases. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.4 | PLA2G6 | Arina Puzriakova Gene: pla2g6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.3 | PLA2G6 |
Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PLA2G6. Tag Q3_24_NHS_review tag was added to gene: PLA2G6. |
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| Hereditary neuropathy or pain disorder v5.19 | PLA2G6 |
Alexander Rossor gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 18443314: 16783378: Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation; peripheral neuropathy Penetrance for gene: PLA2G6 were set to Complete Review for gene: PLA2G6 was set to GREEN Added comment: Sources: Expert list |
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