Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene
Search

Tier

4

ANK3

HGNC:494 (protein-coding gene)

ankyrin 3

Unique Cases:
4
Disorders:
ID, ASD, EP
Last Updated:
January 24, 2024

Gene Summary:

DBD Genes Classification
ANK3 is an Emerging candidate gene classified as Tier 4. Tier 4 genes no de novo pathogenic loss-of-function variants.
Gene Function
Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). Required for intracellular adhesion and junctional conduc... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
No alias sybmols
Chromosomal Location
10q21.2
Genomic Coordinates
GRCh37:chr10:61786056-62493284
GRCh38:chr10:60026298-60733528
Associated Disorders
Intellectual Disability, Autism, Epilepsy

Predictive Scores:

HI Score (Decipher)

3

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.09

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

No Classification

ClinGen Classification (ClinGen)

Moderate1

GenCC Classification (GenCC)

Limited3 Supportive1 Strong1 Moderate1

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.

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.

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.

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.

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.

GenCC

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

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.
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