Previous cardiomyopathies - including childhood onset
Gene: ANKRD1
Phenotype not listed on OMIM. DCMCreated: 25 Mar 2019, 4:30 p.m.
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8. HGMD: 9 DM entries with DCM or HCM (1 with a CHD phenotype). Literature from HGMD: Dalin 2017 International Journal of Cardiology 228 (2017) 742748: missense variants assoc with DCM. 3 variants listed assoc with DCM + a nonsense variant - 2 have ExAC data of 0.04 and 0.02% so may be too high freq. 11 variants listed in this paper in another table all but three have freq data >0.01%. Duboscq-Bidot 2009 (Eur Heart J. 2009 Sep;30(17):2128-36.) - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity and suggests this gene is associated with 2% DCM cases. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333: 3 vairants in four DCM patients but two have reasonably high freq (one was a 15 year old boy), no segregation but functional studies - suggest 1.9% of DCM cases. Yoneda JACC March 17, 2015 Volume 65, Issue 10S - out of 172 patients with ANKRD1 variant that median age of onset is 61.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to ANKRD1.
Source South West GLH was added to ANKRD1. Mode of inheritance for gene ANKRD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh: Associated with relevant pheno
gene: ANKRD1 was added gene: ANKRD1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant