Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Furthermore, we identified pathogenic mutations mainly in the NF1 gene, but also in SPRED1, in more than 50% of children with multiple CALMs, exhibiting an NF1 mutational spectrum different from a group of clinically diagnosed NF1 patients (n = 80). 31573083 2020
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE NF1 and Legius syndrome are caused by alterations in the NF1 and SPRED1 genes encoding the Ras inhibitors neurofibromin and Spred1 (sprouty related EVH1 domain-containing protein), respectively. 31401120 2019
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE In this study, we present a customized targeted gene panel of NF1/KRAS/BRAF/p53 and SPRED1 genes combined with Multiple Ligation-Dependent Probe Amplification analysis for the NF1 mutation screening in a cohort of patients clinically suspected as NF1. 30290804 2018
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE However, this case illustrates that including CMMRD in the differential diagnosis in suspected sporadic NF1 without causative NF1 or SPRED1 mutations may facilitate identification of CMMRD prior to cancer development. 28503822 2018
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Additionally, the Multiplex Ligation-dependent Probe Amplification (MLPA) test of the NF1 gene and SPRED1 gene analysis (sequencing and MLPA test) was performed in some of the negative patients for NF1 point mutations. 30014477 2018
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. 29681099 2018
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. 28150585 2017
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Of seventy-one individuals with ≥6 CAL and no non-pigmentary criterion aged 0-20years, 47 (66.2%) had an NF1 variant six (8.5%) a SPRED1 variant and 18 (25.3%) no disease causing variant. 27322474 2016
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. 24469042 2015
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE An NF1 or SPRED1 alteration was found in 246/279 (88%) and 10/279 (4%) patients, respectively. 25074460 2015
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE Based on our current understanding of KIT and SPRED1 protein interactions, we propose that café-au-lait macules and freckling may be seen in some patients with piebaldism and does not necessarily represent coexistence of neurofibromatosis type 1. 23016555 2014
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE These regions were then sequenced in 47 NF1 patients in whom no mutations had been found in either the NF1 or SPRED1 gene regions. 23947441 2013
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Based on the clinical practice of one NF1 clinic, we found that the cost difference to perform SPRED1 mutation analysis on individuals who meet diagnostic criteria for NF1 without neoplastic or boney manifestation were minimal. 23401230 2013
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE A novel complex mutation in the KIT gene was identified in several family members affected with piebaldism; the proband meeting diagnostic criteria for NF1 also underwent comprehensive NF1 and SPRED1 testing with no mutations detected. 22438235 2012
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE We show that Spred1 binding induces the plasma membrane localization of NF1, which subsequently down-regulates Ras-GTP levels. 22751498 2012
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Although loss of function mutations in the SPRED1 gene are known to cause several dermatologic changes associated with the NF1-like phenotype, to our knowledge, this is the first description of a SPRED1 gene mutation resulting in ophthalmic abnormalities. 19966658 2010
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE The frequency of SPRED1 mutations in patients meeting diagnostic criteria for NF1 in a hospital-based clinic is 1% to 2%. 20179001 2010
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE SPRED1 mutations cause Legius syndrome, which clinically overlaps with this attenuated NF1 phenotype. 20602485 2010
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE SPRED1 mutated patients did not display any specific dermatologic features that were not present in NF1 patients, except for the absence of neurofibromas that seem to be a specific clinical feature of NF1. 19366998 2009
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE The identification of SPRED1 gene mutation in NF1-like patients has major implications for counselling NF1 families. 19443465 2009
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease BEFREE None of the 42 SPRED1-positive individuals (0%; 95% CI, 0%-7%) had discrete cutaneous or plexiform neurofibromas, typical NF1 osseous lesions, or symptomatic optic pathway gliomas. 19920235 2009
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 Biomarker disease CTD_human Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776 2007
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease BEFREE Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776 2007
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
0.400 GeneticVariation disease LHGDN Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776 2007