Adult onset hereditary spastic paraplegia
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 3A, 182600 autosomal dominant
- Spastic Paraplegia, Dominant
- Neuropathy, hereditary sensory, type ID, 613708
- OMIM
- 606439
- Clinvar variants
- Variants in ATL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ATL1 were set to 11685207; 15517445
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ATL1 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ATL1.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATL1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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