Genomics England
GMS Panels
Panels
Genes and Entities

ATL1

atlastin GTPase 1
OMIM: 606439
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type ID, 613708
Green
in Hereditary spastic paraplegia - adult onset
R-numbers: R60
Signed-off version 2.1
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 Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 3A, autosomal dominant,182600, Spastic Paraplegia, Dominant