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Congenital myopathy v4.29 UNC45B Eleanor Williams commented on gene: UNC45B
Congenital myopathy v4.29 UNC45B Eleanor Williams Tag to_be_confirmed_NHSE was removed from gene: UNC45B.
Congenital myopathy v3.116 UNC45B Arina Puzriakova Phenotypes for gene: UNC45B were changed from Myofibrillar myopathy 11, OMIM:619178; myofibrillar myopathy 11, MONDO:0030927 to Myofibrillar myopathy 11, OMIM:619178
Congenital myopathy v3.10 UNC45B Sarah Leigh Tag Q4_22_promote_green tag was added to gene: UNC45B.
Tag Q4_22_expert_review tag was added to gene: UNC45B.
Tag Q4_22_NHS_review tag was added to gene: UNC45B.
Congenital myopathy v3.10 UNC45B Sarah Leigh commented on gene: UNC45B: Associated with relevant Myofibrillar myopathy 11 in OMIM and as strong Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 7 variants have been reported in at least 10 unrelated families. SEgregation has been observed and functional studies suggest that reduced expression of UNC45B is associated with Myofibrillar myopathy 11. This review represents further information from subsequent case reports and the update of OMIM to allow OMIM asign a phenotype tp this gene.
Congenital myopathy v3.10 UNC45B Sarah Leigh Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, OMIM:619178; myofibrillar myopathy 11, MONDO:0030927
Congenital myopathy v3.9 UNC45B Sarah Leigh Publications for gene: UNC45B were set to 33217308
Congenital myopathy v2.93 UNC45B Anna Sarkozy reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33217308, 31852522, 35292251; Phenotypes: congenital myopathy, progressive myopathy with eccentric cores, core myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.83 UNC45B Sarah Leigh commented on gene: UNC45B: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.83 UNC45B Sarah Leigh Deleted their comment
Congenital myopathy v2.83 UNC45B Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: UNC45B.
Congenital myopathy v2.83 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.83 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.74 UNC45B Ivone Leong Tag for-review was removed from gene: UNC45B.
Congenital myopathy v2.74 UNC45B Sarah Leigh commented on gene: UNC45B: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.73 UNC45B Ivone Leong Source Expert Review Green was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.20 UNC45B Sarah Leigh edited their review of gene: UNC45B: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Congenital myopathy v2.20 UNC45B Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have beeb notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.; to: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have been notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.
Congenital myopathy v2.20 UNC45B Sarah Leigh Added comment: Comment on phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores (Gen2Phen)(https://www.ebi.ac.uk/gene2phenotype/gfd?search_type=gfd&dbID=4636). OMIM, MONDO and Orphanet have yet to list this phenotype (20210119)
Congenital myopathy v2.20 UNC45B Sarah Leigh Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Progressive Myopathy with Eccentric Cores
Congenital myopathy v2.19 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.19 UNC45B Sarah Leigh Added comment: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have beeb notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.
Congenital myopathy v2.19 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.18 UNC45B Sarah Leigh Tag for-review tag was added to gene: UNC45B.
Congenital myopathy v2.8 UNC45B Zornitza Stark gene: UNC45B was added
gene: UNC45B was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45B were set to 33217308
Phenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores
Review for gene: UNC45B was set to GREEN
Added comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: Literature