Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 25637064 2015
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 25761634 2015
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease CLINVAR ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 25761634 2015
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease UNIPROT Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. 24473461 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR 'When atlastin meets spastin'. 24417445 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. 25454648 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 23079343 2013
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 23233086 2013
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease CLINVAR Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex. 23999326 2013
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease CLINVAR Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. 21368113 2011
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. 21336785 2011
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.750 CausalMutation disease CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011