Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | CAPN1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CAPN1. Tag Q3_24_NHS_review was removed from gene: CAPN1. |
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| Hereditary neuropathy or pain disorder v6.148 | CAPN1 | Sarah Leigh commented on gene: CAPN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | CAPN1 |
Sarah Leigh Source NHS GMS was added to CAPN1. Source Expert Review Green was added to CAPN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.33 | CAPN1 | Sarah Leigh Phenotypes for gene: CAPN1 were changed from spasticity; pes cavus; peripheral neuropathy to autosomal recessive spastic paraplegia type 76, MONDO:0014827; Spastic paraplegia 76, autosomal recessive, OMIM:616907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.22 | CAPN1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CAPN1. Tag Q3_24_NHS_review tag was added to gene: CAPN1. |
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| Hereditary neuropathy or pain disorder v6.22 | CAPN1 | Sarah Leigh Classified gene: CAPN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.22 | CAPN1 | Sarah Leigh Gene: capn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | CAPN1 | Sarah Leigh reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23741357, 27153400; Phenotypes: autosomal recessive spastic paraplegia type 76, MONDO:0014827, Spastic paraplegia 76, autosomal recessive, OMIM:616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | CAPN1 |
Alexander Rossor gene: CAPN1 was added gene: CAPN1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27153400 Phenotypes for gene: CAPN1 were set to spasticity; pes cavus; peripheral neuropathy Penetrance for gene: CAPN1 were set to Complete Review for gene: CAPN1 was set to GREEN Added comment: 3 families Sources: Expert list |
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