ZBTB18 Chromosome 1
Zinc finger and BTB domain containing 18
Upload your DNA to see your personal genotypes for variants in ZBTB18.
What This Gene Does
This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BTB domain containing"
Locus Type
gene with protein product
Location
1q44
Ensembl
ENSG00000179456
Associated Conditions (9)
Intellectual disability
autosomal dominant 22
Inborn genetic diseases
ZBTB18-related disorder
Marfanoid habitus and intellectual disability
Neurodevelopmental abnormality
Developmental delay
Neurodevelopmental delay
ZBTB18-related intellectual disability
Key Variants
RS1135401770
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS1553270634
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS1572532005
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS1698424563
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS1698439878
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2148557375
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS2148557787
Conflicting classifications of pathogenicity
ZBTB18-related disorder, Intellectual disability, autosomal dominant 22
Health Risk
RS2527561619
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Intellectual disability
Health Risk
RS372007689
Conflicting classifications of pathogenicity
ZBTB18-related disorder, ZBTB18-related disorder
Health Risk
RS528142333
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 22, Inborn genetic diseases
Health Risk
RS749239319
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755047520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1135401770 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1553270634 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1572532005 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698424563 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698439878 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2148557375 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2148557787 | Health Risk | Conflicting classifications of pathogenicity | ZBTB18-related disorder, Intellectual disability, autosomal dominant 22 |
| RS2527561619 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS372007689 | Health Risk | Conflicting classifications of pathogenicity | ZBTB18-related disorder, ZBTB18-related disorder |
| RS528142333 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 22, Inborn genetic diseases |
| RS749239319 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755047520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762403277 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064795259 | Health Risk | Likely pathogenic | — |
| RS1553270468 | Health Risk | Likely pathogenic | — |
| RS1553270599 | Health Risk | Likely pathogenic | Marfanoid habitus and intellectual disability, Intellectual disability, autosomal dominant 22 |
| RS1553270631 | Health Risk | Likely pathogenic | — |
| RS1553270640 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1558148865 | Health Risk | Likely pathogenic | — |
| RS1558149913 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1572531730 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1572531830 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698403157 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698428309 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698429114 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698434416 | Health Risk | Likely pathogenic | — |
| RS1698434969 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1698436913 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2148557361 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2148557671 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527554548 | Health Risk | Likely pathogenic | Developmental delay, Developmental delay |
| RS2527555293 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527555688 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527557571 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527557851 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527561061 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527561247 | Health Risk | Likely pathogenic | — |
| RS2527561443 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527561485 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS2527561750 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS376898131 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS763141634 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS869312689 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS875989785 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1060499655 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1064792999 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 22, Inborn genetic diseases |
| RS1085307108 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1085307109 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 22, Intellectual disability |
| RS1553270470 | Health Risk | Pathogenic | ZBTB18-related disorder, ZBTB18-related disorder |
| RS1553270522 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |