22 Mar 2023
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
30 Nov 2022
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
02 Mar 2020
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.5
Catherine Snow Panel version has been signed off
02 Mar 2020
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
12 Dec 2019
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
12 Dec 2019
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
12 Dec 2019
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
09 Dec 2019
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
28 Nov 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151
GNE
Ellen McDonagh Marked gene: GNE as ready
28 Nov 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151
GNE
Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
28 Nov 2019
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.
28 Nov 2019
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
28 Nov 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150
GNE
Ellen McDonagh Classified gene: GNE as Green List (high evidence)
28 Nov 2019
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.
28 Nov 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150
GNE
Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
21 Oct 2019
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.
13 May 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85
GNE
Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
13 May 2019
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
13 May 2019
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
13 May 2019
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
10 May 2019
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
30 Apr 2019
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:
30 Apr 2019
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
30 Apr 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.34
GNE
Louise Daugherty Publications for gene: GNE were set to
30 Apr 2019
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
30 Apr 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20
GNE
Louise Daugherty Source NHS GMS was added to GNE.
30 Apr 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19
GNE
Louise Daugherty Source South West GLH was added to GNE.
26 Mar 2019
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