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  2. Cardiomyopathy_Paediatric
  3. TCAP
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Cardiomyopathy_Paediatric

Gene: TCAP

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Now DISPUTED gene-disease association by ClinGen Hereditary Cardiovascular Disease GCEP
Created: 23 Apr 2024, 8:19 a.m. | Last Modified: 23 Apr 2024, 8:19 a.m.
Panel Version: 0.178
Created: 23 Apr 2024, 8:19 a.m.
Last Modified: 23 Apr 2024, 8:19 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.178

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three families reported. Variant p.Thr137Ile is present in 4 individuals in gnomad, p.Arg153His is present in 65, and p.Arg70Trp is present in 11.
Created: 21 Jun 2020, 8:09 a.m. | Last Modified: 21 Jun 2020, 8:09 a.m.
Panel Version: 0.87

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, hypertrophic, 25, MIM# 607487

Publications

Created: 21 Jun 2020, 8:09 a.m.
Last Modified: 21 Jun 2020, 8:09 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.87

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

LIMITED evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:30 a.m. | Last Modified: 21 Jun 2020, 6:30 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

Created: 21 Jun 2020, 6:30 a.m.
Last Modified: 21 Jun 2020, 6:30 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital muscular dystrophies
  • Cardiomyopathy, dilated, 1N
OMIM
604488
Clinvar variants
Variants in TCAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCAP was added gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to 21530252; 23479141 Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N