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Congenital muscular dystrophy v7.26 TCAP Achchuthan Shanmugasundram Phenotypes for gene: TCAP were changed from Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954; autosomal recessive limb-girdle muscular dystrophy type 2G, MONDO:0011170
Congenital muscular dystrophy v7.25 TCAP Achchuthan Shanmugasundram Publications for gene: TCAP were set to 23479141; 21530252; 18948002; 25055047; 29797799; 29935994; 32761539; 36463458; 37216648; 39015008
Congenital muscular dystrophy v7.24 TCAP Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy, 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 decade of life. Although there are several patients reported with early/ childhood-onset, there is only patient from PMID:21530252 (2011) reported with onset in infancy and identified with biallelic TCAP variant. This gene is already green in R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Hence, this gene should remain amber on this panel with the current evidence.; to: 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.
Congenital muscular dystrophy v7.24 TCAP Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy, there are at least eight 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 decade of life. Although there are several patients reported with childhood-onset, there is only patient from PMID:36463458 (2023) reported with onset in infancy. This gene is already green in R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Hence, this gebne should remina amber with current evidnece.; to: Comment on list classification: As reviewed by Anna Sarkozy, 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 decade of life. Although there are several patients reported with early/ childhood-onset, there is only patient from PMID:21530252 (2011) reported with onset in infancy and identified with biallelic TCAP variant. This gene is already green in R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Hence, this gene should remain amber on this panel with the current evidence.
Congenital muscular dystrophy v7.24 TCAP Achchuthan Shanmugasundram edited their review of gene: TCAP: Changed publications to: 18948002, 21530252, 23479141, 25055047, 29797799, 29935994, 32761539, 36463458, 37216648, 39015008
Congenital muscular dystrophy v7.24 TCAP Achchuthan Shanmugasundram edited their review of gene: TCAP: Changed publications to: 18948002, 21530252, 25055047, 29797799, 29935994, 32761539, 36463458, 37216648, 39015008
Congenital muscular dystrophy v7.24 TCAP Achchuthan Shanmugasundram Publications for gene: TCAP were set to 23479141; 21530252
Congenital muscular dystrophy v7.23 TCAP Achchuthan Shanmugasundram Classified gene: TCAP as Amber List (moderate evidence)
Congenital muscular dystrophy v7.23 TCAP Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy, there are at least eight 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 decade of life. Although there are several patients reported with childhood-onset, there is only patient from PMID:36463458 (2023) reported with onset in infancy. This gene is already green in R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Hence, this gebne should remina amber with current evidnece.
Congenital muscular dystrophy v7.23 TCAP Achchuthan Shanmugasundram Gene: tcap has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v7.22 TCAP Achchuthan Shanmugasundram reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 18948002, 25055047, 29797799, 29935994, 32761539, 36463458, 37216648, 39015008; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954, autosomal recessive limb-girdle muscular dystrophy type 2G, MONDO:0011170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v7.9 TCAP Anna Sarkozy reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v3.89 TCAP Arina Puzriakova Source was removed from TCAP.
Congenital muscular dystrophy v3.88 TCAP Arina Puzriakova Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
Congenital muscular dystrophy TCAP Ellen McDonagh marked TCAP as ready
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy TCAP Arianna Tucci reviewed TCAP
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy TCAP Ellen McDonagh commented on TCAP
Congenital muscular dystrophy TCAP Emma Clement reviewed TCAP