Genomics England
GMS Panels
Panels
Genes and Entities

ATL1

atlastin GTPase 1
OMIM: 606439
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 3A, 182600 autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 3A, autosomal dominant,182600, Spastic Paraplegia, Dominant
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATL1-associated hereditary spastic paraplegia
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type ID, 613708