Gene: FOXP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308

2016
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. 25853299

2015
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR FOXP1 mutations cause intellectual disability and a recognizable phenotype. 24214399

2013
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations. 22670142

2012
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417

2011
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. 20571508

2010
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 20950788

2010
dbSNP: rs1553667322
rs1553667322
FOXP1
C 0.700 CausalMutation CLINVAR Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors. 12692134

2003