SPRED1 Links

The web links shown below are existing online resources for Legius Syndrome and the SPRED1 gene. Links to several review journal articles are given, as well as genome and protein links.

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Databases

• SPRED1: The Human Gene Mutation Database
• SPRED1: LOVD
• SPRED1: MutDB

Gene and Protein Links

• SPRED1 cDNA: NC_000015.9
• SPRED1 mRNA: NM_152594.2
• SPRED1 protein: NP_689807.1
• SPRED1 at HPRD and Uniprot

Web Reviews

• Entrez Gene: SPRED1
• Genetics Home Reference for SPRED1
• GeneReviews for Legius Syndrome
• OMIM for Legius Syndrome, SPRED1

Peer-Reviewed Literature

• Muram-Zborovski, T.M., et al., SPRED1 Mutations in a Neurofibromatosis Clinic. J Child Neurol, 2010.
• Brems, H., et al., Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 2007. 39(9): p. 1120-6.
• Pasmant, E., et al., SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet, 2009. 46(7): p. 425-30.
• Spurlock, G., et al., SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet, 2009. 46(7): p. 431-7.
• Messiaen, L., et al., Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA, 2009. 302(19): p. 2111-8.