Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Regression v0.85 | SPG11 | Zornitza Stark Marked gene: SPG11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.85 | SPG11 | Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.85 | SPG11 | Zornitza Stark Classified gene: SPG11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.85 | SPG11 | Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.84 | SPG11 |
Zornitza Stark gene: SPG11 was added gene: SPG11 was added to Regression. Sources: Expert Review Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099 Review for gene: SPG11 was set to GREEN gene: SPG11 was marked as current diagnostic Added comment: Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration. Sources: Expert Review |