Cardiomyopathies - including childhood onsetGene: ANKRD1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Phenotype not listed on OMIM. DCM
Created: 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 Expert Review Red was added to ANKRD1. Source NHS GMS was added to ANKRD1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: ANKRD1 was added gene: ANKRD1 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber,South West GLH Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant