Developmental Brain Disorder Gene Database

Missense Gene

Gene

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Missense

TCF20

HGNC:11631 (protein-coding gene)

transcription factor 20

Unique Cases:: 3

Disorders:: ID, ASD, EP, ADHD, SCZ

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator. {ECO:0000269|PubMed:10995766}. (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: AR1, SPBP

Chromosomal Location: 22q13.2

Genomic Coordinates: GRCh37:chr22:42556019-42679933; GRCh38:chr22:42160013-42283927

Associated Disorders: Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder

Predictive Scores:

HI Score (Decipher): 23.45

pLI (gnomAD): 1.00

LOEUF (gnomAD): 0.1

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): Definitive

ClinGen Classification (ClinGen): Definitive1

GenCC Classification (GenCC): Strong2 Supportive1 Definitive1

Cases:

Publications:

Howrigan DP et. al., Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations., Nat Neurosci, 2020

Lindstrand A et. al., Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability., Genet Med, 2022

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.