Variant: rs587779388 

    present in Gene: AP4B1;AP4B1-AS1
    present in Chromosome: 1
    Position on Chromosome: 113898755
    Alleles of this Variant: GT/-

rs587779388 in AP4B1;AP4B1-AS1 gene and Absent speech PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

rs587779388 in AP4B1;AP4B1-AS1 gene and Growth delay PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

rs587779388 in AP4B1;AP4B1-AS1 gene and Microcephaly (physical finding) PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

rs587779388 in AP4B1;AP4B1-AS1 gene and Muscle hypotonia PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

rs587779388 in AP4B1;AP4B1-AS1 gene and SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.