Dilated Cardiomyopathy
Gene: TCAPComment 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
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: LiteratureCreated: 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
Gene: tcap has been classified as Red List (Low Evidence).
Gene: tcap has been classified as Red List (Low Evidence).
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