Congenital muscular dystrophy

Gene: TCAP

I don't know

Comment on list classification: There are at least ten peer-reviewed scientific publications with over 80 reported patients from multiple descents/ geographic locations with autosomal recessive limb-girdle muscular dystrphy 7 (MIM #601954).

The phenotype includes progressive proximal lower limb muscle weakness with typical disease onset is in first to third decades of life. Although there are several patients reported with early/ childhood-onset muscular dystrophy, there is only patient from PMID:21530252 (2011) reported with onset in infancy and identified with biallelic TCAP variant.

This gene is already green on 'R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies' panel. As reviewed by Anna Sarkozy, this gene should remain amber on this panel with the current evidence.

Created: 25 Jun 2026, 2:16 p.m. | Last Modified: 25 Jun 2026, 2:34 p.m.

Panel Version: 7.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954; autosomal recessive limb-girdle muscular dystrophy type 2G, MONDO:0011170

Publications

• 18948002
• 21530252
• 23479141
• 25055047
• 29797799
• 29935994
• 32761539
• 36463458
• 37216648
• 39015008

I don't know

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 panel

Created: 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

I don't know

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

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.

Red List (low evidence)

causes LGMD presentation typically, one case report consistent with CMd presentation (mild features) Ferreiro et al 2011

Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Congenital muscular dystrophies