| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia v1.108 | Bryony Thompson Copied gene CAPN1 from panel Hereditary Spastic Paraplegia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.108 | CAPN1 |
Bryony Thompson gene: CAPN1 was added gene: CAPN1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital,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 Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||