ANKRD11 Chromosome 16
Ankyrin repeat domain 11
Upload your DNA to see your personal genotypes for variants in ANKRD11.
What This Gene Does
This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000167522
Associated Conditions (33)
KBG syndrome
Intellectual disability
ANKRD11-related disorder
Inborn genetic diseases
Multiple congenital anomalies/dysmorphic syndrome
Nonpapillary renal cell carcinoma
Melanoma
Acute myeloid leukemia
Gastric cancer
Atypical behavior
Global developmental delay
Seizure
Macrocephaly
Hand tremor
Neurodevelopmental disorder
See cases
Chromatinopathy
Abnormality of the nervous system
Neurodevelopmental abnormality
Decreased total neutrophil count
+13 more conditions
Key Variants
RS1003255370
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS113110683
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS1131691512
Conflicting classifications of pathogenicity
Intellectual disability, ANKRD11-related disorder, KBG syndrome
Health Risk
RS113527563
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS1168428802
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome, Inborn genetic diseases
Health Risk
RS1194186968
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS1250432793
Conflicting classifications of pathogenicity
Inborn genetic diseases, KBG syndrome, Inborn genetic diseases
Health Risk
RS1258046672
Conflicting classifications of pathogenicity
Inborn genetic diseases, KBG syndrome, Inborn genetic diseases
Health Risk
RS1276607391
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS1283976400
Conflicting classifications of pathogenicity
KBG syndrome, Inborn genetic diseases, KBG syndrome
Health Risk
RS1294714307
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
RS1298734986
Conflicting classifications of pathogenicity
KBG syndrome, KBG syndrome
Health Risk
All Variants (647)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544240998 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544242340 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544242633 | Health Risk | Likely pathogenic | — |
| RS2544242682 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544242948 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544244611 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544246198 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544246392 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544278982 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544305862 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544309561 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS2544463573 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS370673579 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS535355840 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS760037330 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS763207005 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome, KBG syndrome |
| RS763414376 | Health Risk | Likely pathogenic | ANKRD11-related disorder, ANKRD11-related disorder |
| RS781584370 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS972669347 | Health Risk | Likely pathogenic | KBG syndrome, KBG syndrome |
| RS1003478010 | Health Risk | Pathogenic | KBG syndrome, Inborn genetic diseases, KBG syndrome |
| RS1057518663 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1057518987 | Health Risk | Pathogenic | Moderate intellectual deficiency, KBG syndrome, Moderate intellectual deficiency |
| RS1057519399 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1057520565 | Health Risk | Pathogenic | — |
| RS1064793539 | Health Risk | Pathogenic | KBG syndrome, Intellectual disability, KBG syndrome |
| RS1064793599 | Health Risk | Pathogenic | — |
| RS1064794330 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1064797012 | Health Risk | Pathogenic | — |
| RS1064797050 | Health Risk | Pathogenic | — |
| RS1085307544 | Health Risk | Pathogenic | — |
| RS1114167291 | Health Risk | Pathogenic | 10 conditions, 10 conditions |
| RS1135401804 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1135401815 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1156815415 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1163944246 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1184729090 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1221781038 | Health Risk | Pathogenic | KBG syndrome, Inborn genetic diseases, KBG syndrome |
| RS1250598768 | Health Risk | Pathogenic | — |
| RS1265287370 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1298649064 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1352639242 | Health Risk | Pathogenic | — |
| RS1364690005 | Health Risk | Pathogenic | KBG syndrome, Global developmental delay, KBG syndrome |
| RS1372321169 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1381957912 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1411134954 | Health Risk | Pathogenic | Intellectual disability, KBG syndrome, Intellectual disability |
| RS1414996600 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1439069684 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS146294483 | Health Risk | Pathogenic | ANKRD11-related disorder, ANKRD11-related disorder |
| RS146474985 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS148501903 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |