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Congenital myopathy v3.119 VPS33B Arina Puzriakova Phenotypes for gene: VPS33B were changed from vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Congenital myopathy v1.203 VPS33B Louise Daugherty Classified gene: VPS33B as Red List (low evidence)
Congenital myopathy v1.203 VPS33B Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- do NOT cause neuromuscular forms of arthrgrogryposis
Congenital myopathy v1.203 VPS33B Louise Daugherty Gene: vps33b has been classified as Red List (Low Evidence).
Congenital myopathy v1.191 VPS33B Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber 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 Amber 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 v1.190 VPS33B 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 Amber 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 v1.190 VPS33B Louise Daugherty Classified gene: VPS33B as Green List (high evidence)
Congenital myopathy v1.190 VPS33B 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 v1.190 VPS33B Louise Daugherty Gene: vps33b has been classified as Green List (High Evidence).
Congenital myopathy v1.189 VPS33B Louise Daugherty Publications for gene: VPS33B were set to
Congenital myopathy v1.188 VPS33B Louise Daugherty Mode of inheritance for gene: VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.141 VPS33B Louise Daugherty Phenotypes for gene: VPS33B were changed from vacuolar myopathy? to vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Congenital myopathy v1.120 VPS33B Rachael Mein edited their review of gene: VPS33B: Changed publications: 15052268, 16896922; Changed phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1 208085
Congenital myopathy v1.76 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 VPS33B Rachael Mein reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12865991, 17194691; Phenotypes: Arthyrogryposis, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 VPS33B Louise Daugherty Source NHS GMS was added to VPS33B.
Congenital myopathy v1.73 VPS33B Louise Daugherty Source London South GLH was added to VPS33B.
Congenital myopathy VPS33B Helen Brittain marked VPS33B as ready
Congenital myopathy VPS33B Helen Brittain classified VPS33B as amber
Congenital myopathy VPS33B Helen Brittain commented on VPS33B
Congenital myopathy VPS33B Anna Sarkozy reviewed VPS33B