Sudden cardiac death - previous panel
Gene: TCAPEnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 28 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 25 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Changed MOI from 'Monoallelic' to 'Both monoallelic and biallelic' to match the 'Cardiomyopathies - including childhood onset' v0.78 panel.Created: 24 Jan 2019, 5:16 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, hypertrophic, 25 (607487)
- Congenital muscular dystrophies
- Cardiomyopathy, dilated, 1N
- Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
- OMIM
- 604488
- Clinvar variants
- Variants in TCAP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TCAP was added gene: TCAP was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCAP were set to 27532257; 15582318; 20186049 Phenotypes for gene: TCAP were set to Cardiomyopathy, hypertrophic, 25 (607487); Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N; Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)