×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
Biomarker
HPO
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
22460224
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
18728071
2008
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
18081026
2008
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
21671391
2011
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
23185296
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
18728071
2008
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
18627065
2008
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
22678594
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
17436255
2007
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
19235238
2009
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
19938247
2009
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
22045651
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
21245398
2011
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
22045651
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
18081026
2008
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
28807867
2017
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
E2-2 protein and Fuchs's corneal dystrophy.
20825314
2010
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
22712893
2012
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
19938247
2009
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
28807867
2017
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.
21533127
2011
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
17436255
2007
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
17436254
2007
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
22712893
2012