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Congenital myopathy v6.43 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v6.42 SRPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to SRPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.35 SRPK3 Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).; to: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the panel as Green (no evidence for monogenic association).
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Classified gene: SRPK3 as Amber List (moderate evidence)
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.34 SRPK3 Anna Sarkozy reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 38429495, PMID: 39667923; Phenotypes: congenital myopathy; Mode of inheritance: Other
Congenital myopathy v6.8 SRPK3 Arina Puzriakova Classified gene: SRPK3 as Red List (low evidence)
Congenital myopathy v6.8 SRPK3 Arina Puzriakova Added comment: Comment on list classification: There is no evidence that monogenic variants in this gene cause myopathy. Digenic inheritance is not currently accommodated in tiering. The TTN gene is already included on this panel as Green meaning cases could still be picked up if a TTN variant is present. As this is digenic, this gene has been made Red and tagged 'digenic'.
Congenital myopathy v6.8 SRPK3 Arina Puzriakova Gene: srpk3 has been classified as Red List (Low Evidence).
Congenital myopathy v6.7 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Slowly progressive myopathy to Slowly progressive myopathy, digenic
Congenital myopathy v6.6 SRPK3 Arina Puzriakova Publications for gene: SRPK3 were set to 26799446
Congenital myopathy v6.5 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Nemaline myopathy, MONDO:0018958 to Slowly progressive myopathy
Congenital myopathy v6.4 SRPK3 Arina Puzriakova Tag digenic tag was added to gene: SRPK3.
Congenital myopathy v6.4 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: ; Mode of pathogenicity: None; Publications: 16140986, 38429495, 39667923; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v4.39 SRPK3 Dmitrijs Rots reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38429495; Phenotypes: myopathy; Mode of inheritance: Other
Congenital myopathy v3.100 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Nemaline myopathy to Nemaline myopathy, MONDO:0018958
Congenital myopathy v1.166 SRPK3 Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.166 SRPK3 Louise Daugherty commented on gene: SRPK3: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.155 SRPK3 Ivone Leong reviewed gene: SRPK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.131 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600 to Nemaline myopathy
Congenital myopathy v1.120 SRPK3 Rachael Mein edited their review of gene: SRPK3: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.97 SRPK3 Louise Daugherty Publications for gene: SRPK3 were set to
Congenital myopathy v1.96 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from to Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600
Congenital myopathy v1.95 SRPK3 Louise Daugherty Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.76 SRPK3 Louise Daugherty reviewed gene: SRPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 SRPK3 Rachael Mein reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26799446; Phenotypes: Central core disease, 117000, Minicore myopathy with external ophthalmoplegia, 255320, Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Malignant hyperthermia susceptibility 1, 145600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.74 SRPK3 Louise Daugherty Source NHS GMS was added to SRPK3.
Congenital myopathy v1.73 SRPK3 Louise Daugherty gene: SRPK3 was added
gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: SRPK3 was set to