Activity
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| Hereditary neuropathy or pain disorder v6.148 | ATP13A2 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATP13A2. Tag Q3_24_NHS_review was removed from gene: ATP13A2. |
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| Hereditary neuropathy or pain disorder v6.148 | ATP13A2 | Sarah Leigh commented on gene: ATP13A2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ATP13A2 |
Sarah Leigh Source NHS GMS was added to ATP13A2. Source Expert Review Green was added to ATP13A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.32 | ATP13A2 | Sarah Leigh Phenotypes for gene: ATP13A2 were changed from spastic paraplegia; cognitive impairment; peripheral neuropathy to Spastic paraplegia 78, autosomal recessive, OMIM:617225; Kufor-Rakeb syndrome, OMIM:606693; Kufor-Rakeb syndrome, MONDO:0011706; autosomal recessive spastic paraplegia type 78, MONDO:0014975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.23 | ATP13A2 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATP13A2. Tag Q3_24_NHS_review tag was added to gene: ATP13A2. |
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| Hereditary neuropathy or pain disorder v6.23 | ATP13A2 | Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.23 | ATP13A2 | Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | ATP13A2 | Sarah Leigh reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28137957, 27217339, 22296644; Phenotypes: Spastic paraplegia 78, autosomal recessive, OMIM:617225, Kufor-Rakeb syndrome, OMIM:606693, Kufor-Rakeb syndrome, MONDO:0011706, autosomal recessive spastic paraplegia type 78, MONDO:0014975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | ATP13A2 |
Alexander Rossor gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957: Phenotypes for gene: ATP13A2 were set to spastic paraplegia; cognitive impairment; peripheral neuropathy Penetrance for gene: ATP13A2 were set to Complete Review for gene: ATP13A2 was set to GREEN Added comment: Peripheral neuropathy in individuals from 3 different families Sources: Expert list |
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