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Congenital myopathy v4.26 ACTN2 Achchuthan Shanmugasundram reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30701273; Phenotypes: Congenital myopathy 8, OMIM:618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v3.15 ACTN2 Arina Puzriakova Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease; progressive early-onset muscle weakness to Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Congenital myopathy v2.68 ACTN2 Dmitrijs Rots reviewed gene: ACTN2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34471957; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.36 ACTN2 Ivone Leong Publications for gene: ACTN2 were set to 24692096; 30701273
Congenital myopathy v2.5 ACTN2 Zornitza Stark reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30701273, 30900782; Phenotypes: Myopathy, congenital with structured cores and Z-line abnormalities 618654, Myopathy, distal, 6, adult onset 618655; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v1.181 ACTN2 Louise Daugherty Deleted their comment
Congenital myopathy v1.181 ACTN2 Louise Daugherty Classified gene: ACTN2 as Green List (high evidence)
Congenital myopathy v1.181 ACTN2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.
Congenital myopathy v1.181 ACTN2 Louise Daugherty Gene: actn2 has been classified as Green List (High Evidence).
Congenital myopathy v1.169 ACTN2 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red toProvisional Amber rating, this gene could be Green but given the discrepant ratings, this gene needs to be discussed by the Neurology Test Group to confirm; to: Comment on list classification: Changed rating from Red to provisional Amber rating. This gene could be Green based on cases and functional evidence but given the discrepant ratings this gene needs to be discussed by the Neurology Test Group to confirm.
Congenital myopathy v1.169 ACTN2 Louise Daugherty Classified gene: ACTN2 as Amber List (moderate evidence)
Congenital myopathy v1.169 ACTN2 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red toProvisional Amber rating, this gene could be Green but given the discrepant ratings, this gene needs to be discussed by the Neurology Test Group to confirm
Congenital myopathy v1.169 ACTN2 Louise Daugherty Gene: actn2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.168 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease to Multiple structured Core Disease; progressive early-onset muscle weakness
Congenital myopathy v1.167 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to 24692096
Congenital myopathy v1.149 ACTN2 Anna Sarkozy reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30701273; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.120 ACTN2 Rachael Mein edited their review of gene: ACTN2: Changed rating: AMBER; Changed phenotypes: Multiple structured Core Disease
Congenital myopathy v1.119 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to Multiple structured Core Disease
Congenital myopathy v1.113 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to
Congenital myopathy v1.112 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284
Congenital myopathy v1.111 ACTN2 Louise Daugherty Mode of inheritance for gene: ACTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.76 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 ACTN2 Rachael Mein reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24692096; Phenotypes: CAP myopathy 1, 609284, Myopathy, congenital, with fiber-type disproportion, 255310, Nemaline myopathy 1, autosomal dominant or recessive, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 ACTN2 Louise Daugherty Source NHS GMS was added to ACTN2.
Congenital myopathy v1.73 ACTN2 Louise Daugherty gene: ACTN2 was added
gene: ACTN2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ACTN2 was set to