| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.66 | TCAP | Zornitza Stark Marked gene: TCAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.66 | TCAP | Zornitza Stark Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.66 | TCAP | Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.66 | TCAP | Zornitza Stark Classified gene: TCAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.66 | TCAP | Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | TCAP |
Ain Roesley 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 Added comment: 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 |
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