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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32 SMCHD1 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: SMCHD1.
Tag Q1_24_MOI tag was added to gene: SMCHD1.
Tag Q1_24_NHS_review tag was added to gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32 SMCHD1 Sarah Leigh Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901; facioscapulohumeral muscular dystrophy 2, MONDO:0008031
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.31 SMCHD1 Sarah Leigh Publications for gene: SMCHD1 were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh changed review comment from: In line with Ian Berry's (Leeds Genetics Laboratory) review, the mode of inheritance for SMCHD1 should be updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).; to: In line with the recommendations from Ian Berry (Leeds Genetics Laboratory), it is recommended that the mode of inheritance for this gene should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh edited their review of gene: SMCHD1: Added comment: In line with Ian Berry's (Leeds Genetics Laboratory) review, the mode of inheritance for SMCHD1 should be updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).; Changed publications to: 23143600, 24075187, 31600781
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh edited their review of gene: SMCHD1: Added comment: In line with the recommendations from Ian Berry (Leeds Genetics Laboratory), it is recommended that the mode of inheritance for this gene should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least five SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic, (OMIM:158901)(PMID: ).; Changed rating: GREEN; Changed publications to: 23143600; Changed phenotypes to: Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901, facioscapulohumeral muscular dystrophy 2, MONDO:0008031; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Ian Berry reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives. As this is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMCHD1 Ellen McDonagh Tag digenic tag was added to gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: FSHD2, differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SMCHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.54 SMCHD1 Louise Daugherty Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: overlap LGMD phenotype
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SMCHD1 Natalie Forrester reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Mode of inheritance: Other - please specifiy in evaluation comments
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SMCHD1 Louise Daugherty Source NHS GMS was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SMCHD1 Louise Daugherty Source South West GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SMCHD1 Elizabeth Harris reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other