Muscular dystrophy and myopathy_Paediatric

Gene: TCAP

Green List (high evidence)

>3 variants/families reported. Mean age at onset 12.5 years (OMIM).

PMID: 25055047: 2 different variants reported in 2 Dravidian families with LGMD, with a predominantly proximo - distal form of weakness. Raised CK levels consistent between all patients reported. Age of onset ranged from 4 - 23.

Abstract (https://doi.org/10.1016/j.nmd.2012.06.100) Same frameshift variant reported in (PMID: 25055047) identified in one adult patient who presented with progressive muscle weakness in his late teenage years. Authors notes this is the 9th family reported with variants in this gene.

PMID: 22029105: 1 adult patient with slowly progressive weakness in the upper and lower limbs reported with onset in early twenties. Elevated CK levels.

PMID: 18948002: Reported one patient who presented at the age of 15 with progressive proximal limb weakness.

Evidence for link between mono-allelic variants and HCM/DCM is limited: some of the variants reported have a high population frequency.

Created: 26 Mar 2022, 2:08 a.m. | Last Modified: 26 Mar 2022, 2:08 a.m.

Panel Version: 0.11961

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954

Red List (low evidence)

>3 variants/families reported. Mean age at onset 12.5 years (OMIM). More suitable for LGMD panel.

PMID: 25055047: 2 different variants reported in 2 Dravidian families with LGMD, with a predominantly proximo - distal form of weakness. Raised CK levels consistent between all patients reported. Age of onset ranged from 4 - 23.

Abstract (https://doi.org/10.1016/j.nmd.2012.06.100) Same frameshift variant reported in (PMID: 25055047) identified in one adult patient who presented with progressive muscle weakness in his late teenage years. Authors notes this is the 9th family reported with variants in this gene.

PMID: 22029105: 1 adult patient with slowly progressive weakness in the upper and lower limbs reported with onset in early twenties. Elevated CK levels.

PMID: 18948002: Reported one patient who presented at the age of 15 with progressive proximal limb weakness.

Created: 24 Jun 2020, 1:23 a.m. | Last Modified: 24 Jun 2020, 1:23 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)

Publications

• 25055047
• 22029105
• 18948002