Congenital muscular dystrophy

Gene: TCAP

Amber List (moderate evidence)

TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 11 panels

3 reviews

Arianna Tucci (Genomics England Curator)

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

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)

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

History Filter Activity

27 Jan 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jan 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TCAP was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TCAP were set to 23479141;21530252

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TCAP were set to 23479141

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCAP was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCAP was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory