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Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and sometimes accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.
Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (often triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.
Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (often triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is also relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (often triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.
Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova Classified gene: POC5 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (often triggered by exercise and accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.

This disorder is also relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.
Rhabdomyolysis and metabolic muscle disorders v5.9 POC5 Arina Puzriakova Gene: poc5 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v5.8 POC5 Arina Puzriakova gene: POC5 was added
gene: POC5 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature
dd_review, Q3_25_promote_green tags were added to gene: POC5.
Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 29272404; 40590205
Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology; muscle cramps
Review for gene: POC5 was set to GREEN
Added comment: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and neuromuscular abnormalities (10/12) primarily comprising intermittent, involuntary painful muscle cramps (8/12). Muscle cramps arose in childhood and were often disabling and difficult to treat. Elevated serum CK levels were noted in 4 individuals.

Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.
Sources: Literature