Developmental Brain Disorder Gene Database

LoF Variant Gene

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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

Summary
Cases
Publications
External

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)

0.17

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

No Classification

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Strong3 Definitive2 Supportive1

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
Bowling KM et. al., Genomic diagnosis for children with intellectual disability and/or developmental delay., Genome Med, 2017
Elliott AM et. al., Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study., HGG Adv, 2022
Wang Y et. al., Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy., Nat Med, 2024

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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Autism & Developmental Medicine Institute