Hypertrophic cardiomyopathy_HCM
Gene: TCAPEnsemblGeneIds (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 GCEPCreated: 23 Apr 2024, 8:19 a.m. | Last Modified: 23 Apr 2024, 8:19 a.m.
Panel Version: 0.178
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Ivan Macciocca (Victorian Clinical Genetics Services)
LIMITED evidence by ClinGen HCM working group PMID: 30681346Created: 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
- PMID: 30681346
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cardiomyopathy, hypertrophic, 25, MIM# 607487
- Tags
- OMIM
- 604488
- Clinvar variants
- Variants in TCAP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Muscular dystrophy and myopathy_Paediatric
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag disputed tag was added to gene: TCAP.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tcap has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcap has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TCAP were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TCAP were changed from to Cardiomyopathy, hypertrophic, 25, MIM# 607487
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcap has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TCAP was added gene: TCAP was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCAP was set to Unknown