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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 |