Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Congenital myopathy v4.34 TNNT1 Achchuthan Shanmugasundram Publications for gene: TNNT1 were set to 26296490; 25430424; 32994279
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: TNNT1.
Tag Q2_23_NHS_review tag was added to gene: TNNT1.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TNNT1.
Tag Q2_23_NHS_review was removed from gene: TNNT1.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TNNT1.
Tag Q2_23_NHS_review tag was added to gene: TNNT1.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Anna Sarkozy, monoallelic variants in TNNT1 have been reported in two unrelated families with nemaline myopathy and supported by in vitro functional studies. There is sufficient evidence available for updating the MOI from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Mode of inheritance for gene: TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.22 TNNT1 Achchuthan Shanmugasundram reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29178646, 35510366; Phenotypes: Nemaline myopathy 5, Amish type, OMIM:605355; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 TNNT1 Anna Sarkozy edited their review of gene: TNNT1: Added comment: comment re inheritance: both dominant and recessive TNNT1 gene variants have now been reported in patients with congenital myopathies. Dominant mutations are likely acting via a dominant negative mechanism; Changed publications to: 26296490, 25430424, 35510366, 29178646; Changed phenotypes to: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355, autpsomal dominant nemaline myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v3.109 TNNT1 Arina Puzriakova Publications for gene: TNNT1 were set to 26296490; 25430424
Congenital myopathy v3.108 TNNT1 Arina Puzriakova Phenotypes for gene: TNNT1 were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 5, Amish type, 605355 to Nemaline myopathy 5, Amish type, OMIM:605355
Congenital myopathy v2.7 TNNT1 Arina Puzriakova reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32994279; Phenotypes: Nemaline myopathy 5, Amish type, 605355, Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.120 TNNT1 Rachael Mein edited their review of gene: TNNT1: Changed publications: 26296490, 25430424; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355
Congenital myopathy v1.76 TNNT1 Louise Daugherty reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 TNNT1 Rachael Mein reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 TNNT1 Louise Daugherty Source NHS GMS was added to TNNT1.
Congenital myopathy v1.73 TNNT1 Louise Daugherty Source London South GLH was added to TNNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy TNNT1 Anna Sarkozy reviewed TNNT1
Congenital myopathy TNNT1 Helen Brittain marked TNNT1 as ready
Congenital myopathy TNNT1 Helen Brittain reviewed TNNT1