Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Congenital myopathy v6.44 TNNI1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TNNI1.
Congenital myopathy v6.43 TNNI1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TNNI1.
Congenital myopathy v6.43 TNNI1 Achchuthan Shanmugasundram reviewed gene: TNNI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v6.42 TNNI1 Achchuthan Shanmugasundram Source Expert Review Green was added to TNNI1.
Source NHS GMS was added to TNNI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.4 TNNI1 Arina Puzriakova Phenotypes for gene: TNNI1 were changed from Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease to Hypocontractile muscle disease
Congenital myopathy v6.3 TNNI1 Arina Puzriakova Mode of inheritance for gene: TNNI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v6.2 TNNI1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. 3 families with biallelic LOF variants and 3 families with monoallelic GOF variants, presenting with a hypo- or hypercontractile phenotype, respectively.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. 3 families with biallelic LOF variants and 3 families with monoallelic GOF variants, presenting with a hypo- or hypercontractile phenotype, respectively.

However, the biallelic phenotype is early onset and more severe, thus is the only MOI relevant to this panel as severe congenital cases are more likely to be tested under this clinical indication.
Congenital myopathy v6.2 TNNI1 Arina Puzriakova edited their review of gene: TNNI1: Changed phenotypes to: Hypocontractile (AR LOF) muscle disease; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v6.2 TNNI1 Arina Puzriakova Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7
Congenital myopathy v6.2 TNNI1 Arina Puzriakova gene: TNNI1 was added
gene: TNNI1 was added to Congenital myopathy. Sources: Literature,Expert Review Amber
Q2_25_ promote_green tags were added to gene: TNNI1.
Mode of inheritance for gene: TNNI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TNNI1 were set to 38569017; 34934811
Phenotypes for gene: TNNI1 were set to Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease