AHDC1 was first reported in relation to autosomal dominant AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (also reported as Xia-Gibbs syndrome) in 2014 (Xia, et al., PMID: 24791903). At least 35 unique variants (e.g. missense, nonsense, frameshift, large deletion, complex rearrangement, etc.) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data. Variants in this gene have been reported in at least 40 probands in 9 publications (PMIDs: 29696776, 27148574, 24791903, 30152016, 32256298, 31182893, 29230160, 33372375, 30622101). Twelve variants (nonsense, frameshift) that have been reported in 14 probands in 6 publications (PMIDs: 27148574, 31182893, 32256298, 29230160, 24791903, 30152016) are included in this curation. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency (PMIDs: 24791903, 27148574). In summary, AHDC1 is definitively associated with autosomal dominant AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. This classification was approved by the ClinGen (Intellectual Disability and Autism Gene Curation Expert Panel) Working Group on the meeting date 11/16/2021 (SOP Version 8).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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