TCF20 Chromosome 22
Transcription factor 20
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 |
|---|---|---|---|
| RS2518243341 | Health Risk | Pathogenic | — |
| RS2518244849 | Health Risk | Pathogenic | — |
| RS2518248717 | Health Risk | Pathogenic | — |
| RS2518249621 | Health Risk | Pathogenic | — |
| RS751610641 | Health Risk | Pathogenic | Developmental delay with variable intellectual impairment and behavioral abnormalities, Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS777979354 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities, Neurodevelopmental abnormality |
| RS869312678 | Health Risk | Pathogenic | — |
| RS1569146542 | Health Risk | Pathogenic/Likely pathogenic | TCF20-related disorder, Intellectual disability, TCF20-related disorder |
| RS2147193598 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS2518204649 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS2518225140 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |