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Dilated Cardiomyopathy

Gene: TCAP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.
Created: 5 Aug 2020, 6:23 a.m. | Last Modified: 5 Aug 2020, 6:23 a.m.
Panel Version: 0.66
Created: 5 Aug 2020, 6:23 a.m.
Last Modified: 5 Aug 2020, 6:23 a.m.
Panel version: 0.66

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 31303467;
- 1x DCM patient with a missense classified as a VUS by ACMG scheme.
- Glu105Gln (143 hets in gnomAD)

PMID: 15582318;
- 1x DCM patient with a missense
- Glu132Gln (1 het in gnomad)

PMID: 24037902;
- 5x in DCM cohort, all missense except 1 in-frame del
gnomad counts of each variant:
- Glu13del (280 hets, 1 hom)
- Glu105Lys (28 hets)
- Arg106Cys (5095 hets, 523 homs)
- Ala118Val (80 hets, 1 hom)
- Arg158Cys (absent)
Sources: Literature
Created: 5 Aug 2020, 3:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487)

Publications

Created: 5 Aug 2020, 3:39 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954)
  • Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
OMIM
604488
Clinvar variants
Variants in TCAP
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcap has been classified as Red List (Low Evidence).

5 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcap has been classified as Red List (Low Evidence).

5 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: TCAP was added gene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCAP were set to 31303467; 15582318; 24037902 Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487) Penetrance for gene: TCAP were set to unknown Review for gene: TCAP was set to AMBER