Hypertrophic cardiomyopathy
Gene: TCAP
Cardiomyopathy, hypertrophic, 25 (607487)Created: 25 Mar 2019, 4:30 p.m.
6 cases on HGMD, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 28 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 25 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lacks evidence. Reported in HCM and DCM cases in the literature; however, most of these variants are detected at high frequency in ExAC data. No significant segregation described.Created: 6 Jan 2016, 5:11 p.m.
Source South West GLH was added to TCAP. Mode of inheritance for gene TCAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to TCAP.
Source North West GLH was added to TCAP. Added phenotypes Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) for gene: TCAP Publications for gene TCAP were changed from to 15582318; 27532257
TCAP was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
TCAP was added to Hypertrophic Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services