ALS2

ALS2, alsin Rho guanine nucleotide exchange factor
OMIM: 606352
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALS2-RELATED DISORDERS 240656
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100, Primary lateral sclerosis, juvenile, OMIM:606353, Spastic paralysis, infantile onset ascending, OMIM:607225
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100, Primary lateral sclerosis, juvenile, OMIM:606353