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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.8 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'.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 SRPK3 Dmitrijs Rots gene: SRPK3 was added
gene: SRPK3 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to Other
Publications for gene: SRPK3 were set to 38429495
Review for gene: SRPK3 was set to GREEN
Added comment: multiple cases with: "that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene."
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 TTN Arina Puzriakova commented on gene: TTN: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 TTN Arina Puzriakova commented on gene: TTN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 TTN Arina Puzriakova Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.103 TTN Ellen McDonagh Mode of pathogenicity for gene: TTN was changed from to Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall the majority of reviews are Green, and there is a consensus that although classifying variants in this is difficult, additional phenotyping studies can aid in confirmation of diagnosis and that this gene should be included on this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TTN Chiara Marini Bettolo commented on gene: TTN: Disese spectrum can be very variable from congenital myopathy, cardiomyopathy, distal weakness, HMERF to LGMD. Known form of LGMD2J or LGMDR10
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TTN Louise Daugherty Source Yorkshire and North East GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.83 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy; HMERF; arthrogryposis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Chiara Marini Bettolo reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Limb-girdle muscular dystrophy, distal myopathy, HMERF, dilated cardiomyopathy, arthrogryposis, myofibrillar myopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.24 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J 608807 to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.23 TTN Louise Daugherty Publications for gene: TTN were set to 26392295; 12145747
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: 12145747; Phenotypes: Muscular dystrophy, limb-girdle, type 2J, 608807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 TTN Louise Daugherty Source NHS GMS was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 TTN Louise Daugherty Source South West GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Currently only recurrent HMERF associated mutations are reported by this lab but truncating variants are also of great clinical interest. Difficulty classifying variants in titin should not be a reason not to include this gene as additional phenotyping studies such as muscle MRI, biopsy review and protein analysis is often extremely helpful in confirming or refuting the diagnosis.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Loss of function variants are simpler to classify but missense variants are also reported as pathogenic. The analysis of titin variants is more complex than this proforma allows for
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25772186, PMID: 26392295, PMID: 26581302, PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed publications: PMID: 28716623, PMID: 26381502, PMID: 25772186; Changed phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy, distal myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes