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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29 Ida Ertmanska Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2025-04-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.38 Achchuthan Shanmugasundram Panel version 4.37 has been signed off on 2024-10-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 Achchuthan Shanmugasundram Panel version 4.34 has been signed off on 2024-08-07
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 Ivone Leong Panel version 4.32 has been signed off on 2024-05-01
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.5 Catherine Snow Panel version has been signed off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.4 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.3 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.2 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.1 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.186 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Marked gene: GNE as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Classified gene: GNE as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives, and more than 3 cases reported.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GNE Chiara Marini Bettolo commented on gene: GNE: currently provided through LGMD panel at HSS LGMD in Ncl. Proximal and distal weakness, differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.78 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM to Nonaka myopathy, 605820; Distal myopathy; Limb girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.77 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.76 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Chiara Marini Bettolo reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883483; Phenotypes: Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.35 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.34 GNE Louise Daugherty Publications for gene: GNE were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 GNE Natalie Forrester reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: 22883483; Phenotypes: Nonaka myopathy, 605820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 GNE Louise Daugherty Source NHS GMS was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 GNE Louise Daugherty Source South West GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 GNE Elizabeth Harris reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22883483, PMID: 24695763; Phenotypes: Distal myopathy, Limg girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes