Cerebral Palsy
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 8 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional 3 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 3:25 a.m. | Last Modified: 27 May 2024, 3:25 a.m.
Panel Version: 1.193
An additional 4 cases reported with cerebral palsy and P/LP variants in ATL1 in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort. Two more cases reported in a cohort of cryptogenic cerebral palsy.Created: 20 Sep 2021, 2 p.m. | Last Modified: 20 Sep 2021, 2 p.m.
Panel Version: 0.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )
Publications
Kristin Rigbye (Victorian Clinical Genetics Services)
Two CP cohort patients with de novo ATL1 missense variants (p.Ala350Val and p.Lys406Gln) located in the GBP domain. Patients exhibited spasticity and dystonia with brain findings of T2 hyperintensities and bihemispheric periventricular leukomalacia. No functional studies.
Sources: LiteratureCreated: 2 Nov 2020, 4:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral palsy
Publications
- PMID: 32989326
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral palsy
- Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )
- OMIM
- 606439
- Clinvar variants
- Variants in ATL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATL1 were changed from Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ) to Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATL1 were changed from Cerebral palsy to Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATL1 were set to PMID: 32989326
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atl1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Kristin Rigbye (Victorian Clinical Genetics Services)gene: ATL1 was added gene: ATL1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATL1 were set to PMID: 32989326 Phenotypes for gene: ATL1 were set to Cerebral palsy Review for gene: ATL1 was set to AMBER