Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Marked gene: ORAI1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.135 ORAI1 Ellen McDonagh Classified gene: ORAI1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.135 ORAI1 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 v1.135 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ORAI1 Chiara Marini Bettolo reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Source Yorkshire and North East GLH was added to ORAI1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.93 ORAI1 Louise Daugherty gene: ORAI1 was added
gene: ORAI1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, 615883
Review for gene: ORAI1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review