Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset hereditary spastic paraplegia v2.52 | ALS2 | Arina Puzriakova Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.158 | ALS2 | Louise Daugherty Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, 607225 to Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.157 | ALS2 | Louise Daugherty Publications for gene: ALS2 were set to 12145748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.156 | ALS2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | ALS2 | Louise Daugherty Source Yorkshire and North East GLH was added to ALS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | ALS2 | Louise Daugherty commented on gene: ALS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.73 | ALS2 | Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.48 | ALS2 | Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ALS2 | James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | ALS2 | Louise Daugherty Source NHS GMS was added to ALS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | ALS2 | Louise Daugherty Source London North GLH was added to ALS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ALS2 | Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.66 | ALS2 | Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225 to Spastic paralysis, infantile onset ascending, 607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.62 | ALS2 | Arianna Tucci commented on gene: ALS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | ALS2 |
Sarah Leigh gene: ALS2 was added gene: ALS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 12145748 Phenotypes for gene: ALS2 were set to 607225 |