SPG11

SPG11, spatacsin vesicle trafficking associated
OMIM: 610844
PanelMode of inheritanceDetails
10 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, OMIM:604360, Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668, Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA-11 604360
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA-11
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Neuropathies, axonal Charcot-Marie-Tooth disease type 2X
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, 604360, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, 604360
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, 604360, SPASTIC PARAPLEGIA-11
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, OMIM:604360, Complex parkinsonism, hereditary spastic paraparesis, Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 5, juvenile 602099
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2X, 616668