DEAF1 Chromosome 11
DEAF1 transcription factor
Upload your DNA to see your personal genotypes for variants in DEAF1.
What This Gene Does
This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"Zinc fingers MYND-type|SAND domain containing"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177030
Associated Conditions (13)
9 conditions
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability
autosomal dominant 24
Autism spectrum disorder
Inborn genetic diseases
DEAF1-related disorder
Developmental disorder
Autosomal dominant non-syndromic intellectual disability
Neurodevelopmental delay
See cases
Autism
susceptiblity to
Key Variants
RS1038817783
Conflicting classifications of pathogenicity
Health Risk
RS1057518811
Conflicting classifications of pathogenicity
9 conditions, Intellectual disability-epilepsy-extrapyramidal syndrome, 9 conditions
Health Risk
RS1064795812
Conflicting classifications of pathogenicity
Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
Health Risk
RS111947578
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 24, Intellectual disability
Health Risk
RS1127312
Conflicting classifications of pathogenicity
Health Risk
RS1207842035
Conflicting classifications of pathogenicity
Autism spectrum disorder, Inborn genetic diseases, Autism spectrum disorder
Health Risk
RS138447102
Conflicting classifications of pathogenicity
Intellectual disability-epilepsy-extrapyramidal syndrome, DEAF1-related disorder, Inborn genetic diseases
Health Risk
RS1390761338
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143058369
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144498322
Conflicting classifications of pathogenicity
DEAF1-related disorder, DEAF1-related disorder
Health Risk
RS1461468531
Conflicting classifications of pathogenicity
Health Risk
RS1463816273
Conflicting classifications of pathogenicity
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2494458114 | Health Risk | Pathogenic | — |
| RS587777409 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 24, DEAF1-related disorder |
| RS746293140 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 24, Intellectual disability |
| RS775252822 | Health Risk | Pathogenic | — |
| RS1415420832 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-epilepsy-extrapyramidal syndrome, Autism spectrum disorder, DEAF1-related disorder |
| RS1417226023 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 24, DEAF1-related disorder |
| RS1590028691 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 24, Intellectual disability-epilepsy-extrapyramidal syndrome |
| RS1860672898 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2133402368 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 24, Intellectual disability |
| RS587777408 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 24, Intellectual disability |
| RS587777623 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-epilepsy-extrapyramidal syndrome, Inborn genetic diseases, Intellectual disability-epilepsy-extrapyramidal syndrome |
| RS778326610 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886040972 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome |
| RS949860707 | Health Risk | Pathogenic/Likely pathogenic | DEAF1-related disorder, DEAF1-related disorder |