TCF20 Chromosome 22

Transcription factor 20
161 variants 161 Health Risk

Upload your DNA to see your personal genotypes for variants in TCF20.

What This Gene Does
This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
PHD finger proteins
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000100207
Associated Conditions (23)
Inborn genetic diseases
TCF20-related disorder
Developmental delay with variable intellectual impairment and behavioral abnormalities
Familial cancer of breast
Mild intellectual disability
Myoclonus
Autism
Neurodevelopmental abnormality
Neurodevelopmental delay
Autistic behavior
Hypotonia
Attention deficit hyperactivity disorder
Intellectual disability
Failure to thrive
Generalized hypotonia
Moderate intellectual disability
Ptosis
Pectus excavatum
Hypotelorism
Global developmental delay
+3 more conditions
Key Variants
RS1172143599
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1202079826
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1262143079
Conflicting classifications of pathogenicity
TCF20-related disorder, TCF20-related disorder
Health Risk
RS141476635
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141527051
Conflicting classifications of pathogenicity
Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
Health Risk
RS143676414
Conflicting classifications of pathogenicity
Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
Health Risk
RS144735319
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1450225029
Conflicting classifications of pathogenicity
Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
Health Risk
RS147643985
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149389913
Conflicting classifications of pathogenicity
Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
Health Risk
RS149724958
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150925429
Conflicting classifications of pathogenicity
TCF20-related disorder, Inborn genetic diseases, TCF20-related disorder
Health Risk
All Variants (161)
RSID Category Clinical Significance Conditions
RS1172143599 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1202079826 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1262143079 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, TCF20-related disorder
RS141476635 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141527051 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS143676414 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS144735319 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1450225029 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS147643985 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149389913 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS149724958 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150925429 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, Inborn genetic diseases, TCF20-related disorder
RS1601593340 Health Risk Conflicting classifications of pathogenicity —
RS1921012081 Health Risk Conflicting classifications of pathogenicity —
RS1921140611 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1921146718 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199530245 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS200272467 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200310258 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200854743 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2147193882 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518209232 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS371071440 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373214954 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375607848 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376665590 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376787114 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527912796 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS538252151 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539500058 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
RS547085733 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552166978 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, TCF20-related disorder
RS554899790 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555261601 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745763431 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS746307234 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746474528 Health Risk Conflicting classifications of pathogenicity —
RS746740337 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750513879 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750743110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754279263 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS755943322 Health Risk Conflicting classifications of pathogenicity —
RS756871251 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758391601 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761495177 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS762875633 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764609499 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764736571 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765172300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766229168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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