GATAD2B Chromosome 1
GATA zinc finger domain containing 2B
Upload your DNA to see your personal genotypes for variants in GATAD2B.
What This Gene Does
This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143614
Associated Conditions (7)
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
See cases
Inborn genetic diseases
GATAD2B-related disorder
Intellectual disability
Glioma susceptibility 1
GATAD2B-related intellectual disability syndrome
Key Variants
RS115193744
Conflicting classifications of pathogenicity
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Health Risk
RS1261538447
Conflicting classifications of pathogenicity
Health Risk
RS138922965
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS144946574
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149608942
Conflicting classifications of pathogenicity
GATAD2B-related disorder, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, GATAD2B-related disorder
Health Risk
RS150972720
Conflicting classifications of pathogenicity
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Health Risk
RS2525232549
Conflicting classifications of pathogenicity
Health Risk
RS368264266
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368676576
Conflicting classifications of pathogenicity
Health Risk
RS370689496
Conflicting classifications of pathogenicity
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Health Risk
RS372276373
Conflicting classifications of pathogenicity
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Health Risk
RS376882053
Conflicting classifications of pathogenicity
Health Risk
All Variants (100)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553188314 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1553188335 | Health Risk | Pathogenic | — |
| RS1553188463 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Intellectual disability, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1553189680 | Health Risk | Pathogenic | — |
| RS1553189681 | Health Risk | Pathogenic | Glioma susceptibility 1, Glioma susceptibility 1 |
| RS1553189700 | Health Risk | Pathogenic | — |
| RS1553189704 | Health Risk | Pathogenic | — |
| RS1557778985 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1557781252 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1570929072 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1570929904 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1570929919 | Health Risk | Pathogenic | — |
| RS1570937961 | Health Risk | Pathogenic | — |
| RS1570938014 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674353589 | Health Risk | Pathogenic | Intellectual disability, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Intellectual disability |
| RS1674353634 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1674357007 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674512996 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674576482 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674577139 | Health Risk | Pathogenic | Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases |
| RS1674609315 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674943336 | Health Risk | Pathogenic | — |
| RS1674944862 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1674948389 | Health Risk | Pathogenic | — |
| RS1674950708 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2101876357 | Health Risk | Pathogenic | — |
| RS2101880713 | Health Risk | Pathogenic | — |
| RS2101880773 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS2101881414 | Health Risk | Pathogenic | — |
| RS2101882373 | Health Risk | Pathogenic | — |
| RS2101891457 | Health Risk | Pathogenic | — |
| RS2525237776 | Health Risk | Pathogenic | — |
| RS2525237895 | Health Risk | Pathogenic | — |
| RS2525248081 | Health Risk | Pathogenic | See cases, See cases |
| RS2525252561 | Health Risk | Pathogenic | Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases |
| RS2525256628 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS2525261271 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2525291265 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS2525291364 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2525291465 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS2525291782 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS587776931 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS886037647 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS886041621 | Health Risk | Pathogenic | GATAD2B-related disorder, GATAD2B-related intellectual disability syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS946006593 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS974287422 | Health Risk | Pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1057521041 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674313030 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS1674480467 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, See cases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| RS761820222 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |