AHDC1

AT-hook DNA binding motif containing 1

AHDC1

Approved Name: AT-hook DNA binding motif containing 1
AHDC1 aliases: DJ159A19.3, RP1-159A19.1
Chromosomal Location: 1p36.11-p35.3
HGNC: HGNC:25230

Tier 1 Gene with three or more de novo pathogenic loss-of-function variants

18.42 Haploinsufficiency Score (Decipher)

1 Probability of Being LoF Intolerant (gnomAD)

Last Updated: Dec 31, 2019
NCBI Gene
Gene Reviews

Cases

	Patient ID *	Disorder(s)	Variant Type	Inheritance	Method	Chromosome *	Start Coordinate *	End Coordinate *	CNV Size *	Genome Build *	Coding DNA Change *	Protein Change *	Position *	Reference Sequence *	Alternate Sequence *	Reference

References

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

Gumus E et. al., Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation., Eur J Med Genet, 2020

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

Research

AHDC1

AT-hook DNA binding motif containing 1

AHDC1

Cases

References

Autism & Developmental Medicine Institute