Hypertrophic cardiomyopathy - teen and adult

Gene: TCAP

Red List (low evidence)

TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 10 panels

4 reviews

Rebecca Whittington (South West GLH)

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

Ellen McDonagh (Genomics England Curator)

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.

James Eden (Manchester)

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

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
OMIM
604488
Clinvar variants
Variants in TCAP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TCAP.

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCAP was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCAP was added to Hypertrophic Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services