Muscular dystrophy and myopathy_Paediatric
Gene: TCAP
>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
>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
Gene: tcap has been classified as Red List (Low Evidence).
Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)
Publications for gene: TCAP were set to
Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: tcap has been classified as Red List (Low Evidence).
gene: TCAP was added gene: TCAP was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCAP was set to Unknown