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| Hereditary Spastic Paraplegia v1.101 | ALS2 |
Chirag Patel Source Royal Melbourne Hospital was removed from ALS2. Source ClinGen was added to ALS2. Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, MIM# 607225 to ALS2-related motor neuron disease, MONDO:0100227 Publications for gene ALS2 were changed from 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 to 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 |
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| Hereditary Spastic Paraplegia v0.211 | ALS2 | Zornitza Stark Marked gene: ALS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.211 | ALS2 | Zornitza Stark Gene: als2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.211 | ALS2 | Zornitza Stark Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225 to Spastic paralysis, infantile onset ascending, MIM# 607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.210 | ALS2 | Zornitza Stark Publications for gene: ALS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.209 | ALS2 | Zornitza Stark reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 12509863, 24315819; Phenotypes: Spastic paralysis, infantile onset ascending, MIM# 607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.0 | ALS2 |
Bryony Thompson gene: ALS2 was added gene: ALS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225 |
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