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Congenital myopathy v4.26 ECEL1 Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v3.37 ECEL1 Arina Puzriakova Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D, 615065 to Arthrogryposis, distal, type 5D, OMIM:615065
Congenital myopathy v2.5 ECEL1 Zornitza Stark reviewed gene: ECEL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.191 ECEL1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.184 ECEL1 Louise Daugherty Classified gene: ECEL1 as Green List (high evidence)
Congenital myopathy v1.184 ECEL1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.184 ECEL1 Louise Daugherty Gene: ecel1 has been classified as Green List (High Evidence).
Congenital myopathy v1.171 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 23261301
Congenital myopathy v1.149 ECEL1 Anna Sarkozy edited their review of gene: ECEL1: Added comment: note that we have now identified at least 6 urelated families with ECEL1 gene mutations. patients present a variable degree of contractural phenotype, some with more severe Arhtrogryposis but still in keeping with a diagnosis of congenital myopathy. thus we would strongly recommend for this gene to be considered in the Cong Myopathy panel.; Changed publications: 30131190; Set current diagnostic: yes
Congenital myopathy v1.139 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D, 615065
Congenital myopathy v1.138 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.137 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 22396310
Congenital myopathy v1.120 ECEL1 Rachael Mein edited their review of gene: ECEL1: Changed publications: 23261301; Changed phenotypes: Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.86 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.85 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to
Congenital myopathy v1.76 ECEL1 Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 ECEL1 Rachael Mein reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22396310; Phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 ECEL1 Louise Daugherty Source NHS GMS was added to ECEL1.
Congenital myopathy v1.73 ECEL1 Louise Daugherty Source London South GLH was added to ECEL1.
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy ECEL1 Anna Sarkozy reviewed ECEL1
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy ECEL1 Helen Brittain reviewed ECEL1