Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene

Return to LoF Gene Listing Page

Tier

1 AHDC1

HGNC:25230 (protein-coding gene)

AT-hook DNA binding motif containing 1

Unique Cases:: 30

Disorders:: ID, ASD, EP, SCZ, CP

Last Updated:: November 4, 2024

Gene Summary:

DBD Genes Classification: AHDC1 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: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237). {ECO:... (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: DJ159A19.3, RP1-159A19.1

Chromosomal Location: 1p36.11-p35.3

Genomic Coordinates: GRCh37:chr1:27860756-27930005; GRCh38:chr1:27534245-27604178

Associated Disorders: Intellectual Disability, Autism, Epilepsy, Cerebral Palsy

Predictive Scores:

HI Score (Decipher): 18.42

pLI (gnomAD): 1.00

LOEUF (gnomAD): 0.08

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): No Classification

ClinGen Classification (ClinGen): Definitive1

GenCC Classification (GenCC): Strong3 Definitive2 Supportive1

Cases:

Publications:

Yang H et. al., De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay., Cold Spring Harb Mol Case Stud, 2015

Xia F et. al., De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea., Am J Hum Genet, 2014

Jiang Y et. al., The phenotypic spectrum of Xia-Gibbs syndrome., Am J Med Genet A, 2018

Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014

Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019

Díaz-Ordoñez L et. al., Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report., Iran J Med Sci, 2019

Moreno-De-Luca A et. al., Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy., JAMA, 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

et. al., , ,

External References:

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

Developmental Brain Disorder Gene Database

LoF Variant Gene

Tier

1

AHDC1

HGNC:25230 (protein-coding gene)

AT-hook DNA binding motif containing 1

Gene Summary:

Predictive Scores:

18.42

1.00

0.08

Classifications from External Sources:

1

No Classification

Definitive1

Strong3 Definitive2 Supportive1

Cases:

Publications:

External References: