Childhood onset hereditary spastic paraplegia
Gene: ATL1
Childhood onset but rare cases of adult onset reported.Created: 3 May 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Victoria: Also childhood onset HSP. On Current HSP paneland Sheffields HSP panelCreated: 28 Apr 2019, 4:16 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
Spastic paraplegia 3A, childhood onsetCreated: 14 Jan 2019, 4:16 p.m.
Publications for gene: ATL1 were set to 11685207; 15517445
Publications for gene: ATL1 were set to 11685207
Source Yorkshire and North East GLH was added to ATL1.
Source NHS GMS was added to ATL1.
Source London North GLH was added to ATL1.
Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1
Arianna Tucci: Spastic paraplegia 3A, childho
Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant
Publications for gene: ATL1 were set to PMID: 11685207
gene: ATL1 was added gene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to PMID: 11685207 Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant