Adult onset hereditary spastic paraplegia
Gene: ATL1
Childhood onset but rare cases of adult onset reported.Created: 3 May 2019, 4:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Victoria: Also childhood onset HSP. On Current HSP panel+ Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708
Publications for gene: ATL1 were set to 11685207; 15517445
Publications for gene: ATL1 were set to
Source Yorkshire and North East GLH was added to ATL1.
Source Expert Review Green was added to ATL1. Mode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ATL1.
gene: ATL1 was added gene: ATL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ATL1 was set to