Hypertrophic cardiomyopathy
Gene: ANKRD1
Glycogen storage disease IIIa&bCreated: 25 Mar 2019, 4:30 p.m.
No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Variants in this GENE are reported as part of current diagnostic practice
Source South West GLH was added to ANKRD1. Mode of inheritance for gene ANKRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source London South GLH was added to ANKRD1.
ANKRD1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
ANKRD1 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN