Hereditary spastic paraplegia
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels
3 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia; hereditary sensory neuropathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 3A, autosomal dominant,
- Spastic Paraplegia, Dominant
- Spastic paraplegia 3A, autosomal dominant
- OMIM
- 606439
- Clinvar variants
- Variants in ATL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ATL1 were set to PMID: 11685207
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATL1 was added to Hereditary spastic paraplegiapanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ATL1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ATL1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ATL1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)ATL1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list