ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 Biomarker disease GENOMICS_ENGLAND The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 29691679 2018
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 25637064 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 25761634 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease CLINVAR ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 25761634 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 Biomarker disease BEFREE Here we analyzed a subset of established atlastin1/SPG3A disease variants using cell-based assays for atlastin-mediated ER network formation and biochemical assays for atlastin-catalyzed GTP hydrolysis, dimer formation, and membrane fusion. 25761634 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 Biomarker disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 24451228 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease BEFREE We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1. 25193411 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease UNIPROT Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. 24473461 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR 'When atlastin meets spastin'. 24417445 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. 25454648 2014
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 23079343 2013
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 23233086 2013
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease CLINVAR Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex. 23999326 2013
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706 2013
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease UNIPROT Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706 2013
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 Biomarker disease GENOMICS_ENGLAND   Our family carrying the N355K ATL1 mutation, which was initially diagnosed as HSN I, enlarges the SPG3A phenotype. 22340599 2012
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease BEFREE Our family carrying the N355K ATL1 mutation, which was initially diagnosed as HSN I, enlarges the SPG3A phenotype. 22340599 2012
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 Biomarker disease GENOMICS_ENGLAND   Our family carrying the N355K ATL1 mutation, which was initially diagnosed as HSN I, enlarges the SPG3A phenotype. 22340599 2012
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease CLINVAR Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. 21368113 2011
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		0.750 CausalMutation disease CLINVAR Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. 21336785 2011