Hypertrophic cardiomyopathy

Gene: TCAP

Red List (low evidence)

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. 28518168

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

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.

Red List (low evidence)

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

• 15582318
• 27532257

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

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.