ANKRD1 was originally evaluated for DXM by the ClinGen DCM GCEP on 08/12/2020. Evidence of the association of this gene with DCM was evaluated using SOP v10 on 02/07/2025. As a result, the classification did not change. A summary of the information contributing to the classification of this gene at the time of re-evaluation is summarized herein.
ANKRD1 was first reported in relation to autosomal dominant DCM in 2009 (Duboscq-Bidot L et al, 2009, PMID: 19525294). Human genetic evidence supporting this gene-disease relationship includes case level data and segregation data. At least 16 unique variants (missense (n=13) and nonsense (n=3)) have been reported in humans, representing at least 23 probands from 7 publications (Duboscq-Bidot L et al, 2009, PMID: 19525294; Moulik et al, 2009, PMID: 19608030, Dalin et al, 2017, PMID: 27886618, Haas et al, 2015, PMID: 25163546, Marschall C et al, 2019, PMID: 31737537, Zhang XL et al, 2020, PMID: 32041989, van Lint et. al 2019, PMID: 30847666). Variants in this gene segregated with disease in 4 additional family members (Duboscq-Bidot L et al, 2009, PMID: 19525294). In addition, this gene-disease association is supported by evidence from expression studies (Duboscq-Bidot L et al, 2009, PMID: 19525294; Moulik et al, 2009, PMID: 19608030), in vitro functional assays (Moulik et al, 2009, PMID: 19608030), and non-human models (Zheng et al, 2021, PMID: 33734499). In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of ANKRD1 with autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on 02/07/2025 (SOP Version 10).
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).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.