ALS2

ALS2, alsin Rho guanine nucleotide exchange factor
OMIM: 606352
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALS2-RELATED DISORDERS 240656
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100