Gene: ANKRD11

Alternate names for this Gene: ANCO-1|ANCO1|LZ16|T13

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: ankyrin repeat domain 11

Type of Gene: protein-coding

rs1221781038 in ANKRD11 gene and Dysmorphic features PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 17163996 2006 KBG syndrome.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

rs1567574291 in ANKRD11 gene and KBG syndrome PMID 27605097 2016 Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

rs1555528558 in ANKRD11 gene and Multiple congenital anomalies PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 17163996 2006 KBG syndrome.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555528357 in ANKRD11 gene and Muscle hypotonia PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 17163996 2006 KBG syndrome.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

rs140088599 in ANKRD11 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117984432 in ANKRD11 gene and Squamous cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs3114908 in ANKRD11 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.