| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 | POGLUT1 | Sarah Leigh commented on gene: POGLUT1: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 21 POGLUT1 variants have been reported in at least 20 unrelated cases (PMID: 27807076; 31897643; 33861953). Supportive in vitro and in vivo functional studies were presented in PMID: 31897643. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 | POGLUT1 | Sarah Leigh Publications for gene: POGLUT1 were set to 27807076; 29034878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.8 | POGLUT1 | Sarah Leigh Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 | POGLUT1 | Sarah Leigh Classified gene: POGLUT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 | POGLUT1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 | POGLUT1 | Sarah Leigh Gene: poglut1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 | POGLUT1 | Sarah Leigh reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31897643; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232, autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 | POGLUT1 | Sarah Leigh Tag Q1_23_promote_green tag was added to gene: POGLUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.1 | POGLUT1 | Katherine Schon reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31897643; Phenotypes: limb girdle weakness, thigh weakness, muscle MRI abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.128 | POGLUT1 | Ellen McDonagh Publications for gene: POGLUT1 were set to 27807076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 | POGLUT1 | Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).; to: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 | POGLUT1 | Ellen McDonagh Classified gene: POGLUT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 | POGLUT1 | Ellen McDonagh Gene: poglut1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 | POGLUT1 | Ellen McDonagh Classified gene: POGLUT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 | POGLUT1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 | POGLUT1 | Ellen McDonagh Gene: poglut1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.98 | POGLUT1 | Louise Daugherty Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | POGLUT1 | Chiara Marini Bettolo commented on gene: POGLUT1: new gene added after analysis. Currently provided by HSS for LGMDin Ncl via LGMD panel. Known form of LGMD2Z or LGMDR21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | POGLUT1 | Louise Daugherty Source NHS GMS was added to POGLUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | POGLUT1 | Louise Daugherty Source Yorkshire and North East GLH was added to POGLUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 | POGLUT1 | Louise Daugherty Classified gene: POGLUT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 | POGLUT1 | Louise Daugherty Gene: poglut1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | POGLUT1 |
Chiara Marini Bettolo gene: POGLUT1 was added gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POGLUT1 were set to 27807076 Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy Review for gene: POGLUT1 was set to GREEN Added comment: Sources: Expert list |
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