| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v1.77 | Bryony Thompson Copied gene CAPN1 from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.77 | CAPN1 |
Bryony Thompson gene: CAPN1 was added gene: CAPN1 was added to Ataxia. Sources: Expert Review Green,Expert list,Expert Review Amber,Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286 Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827 |
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| Ataxia v0.33 | Bryony Thompson removed gene:CAPN1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.0 | CAPN1 |
Bryony Thompson gene: CAPN1 was added gene: CAPN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN1 were set to Spastic paraplegia type 76, 616907 |
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