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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: SYNE2.
Tag Q3_22_NHS_review was removed from gene: SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova commented on gene: SYNE2
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 SYNE2 Arina Puzriakova Mode of inheritance for gene SYNE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 SYNE2 Sarah Leigh Tag Q3_22_MOI tag was added to gene: SYNE2.
Tag Q3_22_NHS_review tag was added to gene: SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.41 SYNE2 Sarah Leigh Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.40 SYNE2 Sarah Leigh Added comment: Comment on publications: PMID: 19542096 refers only to variants in SYNE1 and so is not relevant to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.40 SYNE2 Sarah Leigh Publications for gene: SYNE2 were set to 17761684; 19542096; 20301609
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.39 SYNE2 Sarah Leigh Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.38 SYNE2 Tracy Lester reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.109 SYNE2 Ellen McDonagh Classified gene: SYNE2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.109 SYNE2 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 v1.109 SYNE2 Ellen McDonagh Gene: syne2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SYNE2 Chiara Marini Bettolo commented on gene: SYNE2: Form of EDMD. Differential diagnosis with AD LGMD. (proximal weakness and raised CK)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SYNE2 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.67 SYNE2 Louise Daugherty Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Chiara Marini Bettolo reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761684, 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Louise Daugherty reviewed gene: SYNE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.27 SYNE2 Louise Daugherty Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.26 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.25 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SYNE2 Natalie Forrester reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SYNE2 Louise Daugherty Source NHS GMS was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SYNE2 Louise Daugherty Source South West GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: phenotypic overlap with LGMDs warrants inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17761684, PMID: 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal