This Panel is marked as Internal
Congenital muscular dystrophy and congenital myopathy
Gene: TCAP
TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels
3 reviews
Arianna Tucci (Genomics England Curator)
One case described with onset in infancy (21530252), otherwise typically associated with early onset (10-20 yrs) limb-girdle muscular dystrophy.Created: 26 Jan 2017, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Keep as amber, due to reviewer's comments; only one case reported with onset in infancy.Created: 27 Jan 2017, 2:03 p.m.
Comment on list classification: Literature search identified two cases where phenotype overlapped with a CMD presentation, and PMID: 21530252 states "Therefore telethonin analysis should be performed in patients suffering from congenital muscular dystrophy of unknown cause." I am therefore unsure whether this should be included on this panel.Created: 25 Jan 2017, 12:29 p.m.
Emma Clement (Great Ormond Street Hospital)
causes LGMD presentation typically, one case report consistent with CMd presentation (mild features) Ferreiro et al 2011Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
Congenital muscular dystrophies
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Expert Review Amber
- Phenotypes
-
- Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
- OMIM
- 604488
- Clinvar variants
- Variants in TCAP
- Penetrance
- Complete
- 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
6 Feb 2023, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: TCAP was added gene: TCAP was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Amber,Emory Genetics Laboratory Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to 23479141; 21530252 Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 Penetrance for gene: TCAP were set to Complete