Dilated cardiomyopathy - adult and teen

Gene: TCAP

Amber List (moderate evidence)

TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 11 panels

6 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Created: 24 Mar 2019, 10:24 a.m.
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: no stated association with DCM, 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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel; 3 unrelated patients in OMIM
Created: 14 Feb 2016, 4:22 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Cardiomyopathy, dilated, 1N
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
OMIM
604488
Clinvar variants
Variants in TCAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tcap has been classified as Amber List (Moderate Evidence).

8 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TCAP was added gene: TCAP was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TCAP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TCAP were set to 15582318; 20186049; 27532257 Phenotypes for gene: TCAP were set to Cardiomyopathy, hypertrophic, 25 (607487); Cardiomyopathy, dilated, 1N; Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)