Congenital muscular dystrophy
Gene: TCAP
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.
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
Source was removed from TCAP.
Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for TCAP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for TCAP were set to 23479141;21530252
Publications for TCAP were set to 23479141
TCAP was added to Congenital muscular dystrophypanel. Source:
TCAP was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory