Dilated Cardiomyopathy and conduction defects
Gene: ANKRD1
Phenotype not listed on OMIM. DCMCreated: 25 Mar 2019, 4:30 p.m.
Reported in: 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: 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 - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333. 3 vairants in four DCM patients but two have reasonably high freq, no segregation but functional studies - suggest 1.9% of DCM cases and Duboscq-Bidot suggest 2% DCM cases. Not much more recently apart from Dalin where possibly 3 candidate variantsCreated: 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
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: 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.
Created: 19 Feb 2016, 1:55 p.m.
Publications
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
Source London South GLH was added to ANKRD1.
Model of inheritance for gene ANKRD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ANKRD1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ANKRD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ANKRD1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
ANKRD1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory