Developmental Brain Disorder Gene Database

LoF Variant Gene

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Tier

1

ANKRD11

HGNC:21316 (protein-coding gene)

ankyrin repeat domain containing 11

Unique Cases:
79
Disorders:
ID, ASD, EP, ADHD
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

DBD Genes Classification
ANKRD11 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
Gene Function
Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity). {ECO:0000250|UniProtKB:E9Q4F7, ECO:0000269|PubMed:15184363, ECO:0000269|PubMed:255... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
LZ16, T13, ANCO1, ANCO-1
Chromosomal Location
16q24.3
Genomic Coordinates
GRCh37:chr16:89334029-89556969
GRCh38:chr16:89267619-89490561
Associated Disorders
Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder

Predictive Scores:

HI Score (Decipher)

75.55

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.11

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Definitive4 Supportive1 Limited1 Strong1

Publications:

Kim HJ et. al., A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion., Eur J Med Genet, 2015
Parenti I et. al., Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype., Clin Genet, 2016
Ockeloen CW et. al., Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations., Eur J Hum Genet, 2015
Homma TK et. al., Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing., J Pediatr, 2019
Helbig KL et. al., Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy., Genet Med, 2016
Goldenberg A et. al., Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11., Am J Med Genet A, 2016
Snoeijen-Schouwenaars FM et. al., Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability., Epilepsia, 2019
Dillon OJ et. al., Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders., Eur J Hum Genet, 2018
Lionel AC et. al., Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test., Genet Med, 2018
Dong S et. al., De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder., Cell Rep, 2014
Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014
Trujillano D et. al., Clinical exome sequencing: results from 2819 samples reflecting 1000 families., Eur J Hum Genet, 2017
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019
Kim SY et. al., Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies., Seizure, 2019
Soden SE et. al., Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders., Sci Transl Med, 2014
Sirmaci A et. al., Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia., Am J Hum Genet, 2011
Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019
Chérot E et. al., Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients., Clin Genet, 2018
Munnich A et. al., Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder., Mol Autism, 2019
Lindstrand A et. al., From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability., Genome Med, 2019
Libianto R et. al., KBG syndrome presenting with brachydactyly type E., Bone, 2019
Kleyner R et. al., KBG syndrome involving a single-nucleotide duplication in ANKRD11., Cold Spring Harb Mol Case Stud, 2016
De Bernardi ML et. al., Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11., Am J Med Genet A, 2018
Arteche-López A et. al., Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test., Genes (Basel), 2021
Mainali A et. al., Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics., Am J Med Genet A, 2022
Hiraide T et. al., Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing., Clin Genet, 2021
Brea-Fernández AJ et. al., Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability., Eur J Hum Genet, 2022
Lindstrand A et. al., Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability., Genet Med, 2022
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NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
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