| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia - adult onset v0.93 | PNPLA6 | Zornitza Stark Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.93 | PNPLA6 | Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.93 | PNPLA6 | Zornitza Stark Publications for gene: PNPLA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.92 | PNPLA6 |
Zornitza Stark changed review comment from: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood, although at least one family with onset of spasticity in childhood reported. Sources: Expert list; to: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.92 | PNPLA6 | Zornitza Stark edited their review of gene: PNPLA6: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia 39, autosomal recessive, MIM# 612020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | PNPLA6 |
Bryony Thompson gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive, 612020 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||