Congenital muscular dystrophy
Gene: TCAPEnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels
4 reviews
Anna Sarkozy (Great Ormond Street Hospital)
recessive variants cause LGMD, disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs. This gene is green in LGMD panelCreated: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.
Panel Version: 7.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
-
- Expert Review Amber
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
- OMIM
- 604488
- Clinvar variants
- Variants in TCAP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
History Filter Activity
Removed Source
Arina Puzriakova (Genomics England Curator)Source was removed from TCAP.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TCAP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TCAP were set to 23479141;21530252
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TCAP were set to 23479141
Added New Source
Ellen McDonagh (Genomics England Curator)TCAP was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)TCAP was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory