Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Acute rhabdomyolysis v3.1 CAV3 Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: CAV3.
Tag Q3_26_MOI tag was added to gene: CAV3.
Acute rhabdomyolysis v3.1 CAV3 Ida Ertmanska edited their review of gene: CAV3: Added comment: Comment on mode of inheritance: There are 7 families reported in literature with biallelic CAV3 variants and features of a metabolic muscle disorder. Only 2 patients harbouring the same variant p.Ala93Thr presented with severe rippling muscle disease (PMIDs: 12666119; 15668980). Other individuals had variable presentations including isolated exercise intolerance, limb girdle muscular dystrophy, and mild proximal muscle weakness. One individual was asymptomatic at 49 years. In addition, 2/7 cases harboured Likely Benign variants with homozygotes reported in gnomAD (PMIDs: 9536092; 18253147). Hence, mode of inheritance should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, due to conflicting evidence for a BIALLELIC association. An 'expert-review' tag was added to obtain a second opinion on this proposed change.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Acute rhabdomyolysis v3.1 CAV3 Ida Ertmanska changed review comment from: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).

PMID: 18253147 Traverso et al., 2008
Patient 1, a 58yo female, affected by dilated cardiomyopathy and limb girdle muscular dystrophy (LGMD)-1C, showed an autosomal recessive mutation CAV3 c.233C>T, p.(T78M). Neurological examination revealed generalized hypotonia, proximal weakness and hypotrophy of the upper limbs, and proximal hypotrophy and calf hypetrophy of the lower limbs.
Variant has MAF = 0.008413 in gnomAD, including one homozygote - VUS leaning Benign.; to: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).

PMID: 18253147 Traverso et al., 2008
Patient 1, a 58yo female, affected by dilated cardiomyopathy and limb girdle muscular dystrophy (LGMD)-1C, showed an autosomal recessive mutation CAV3 c.233C>T, p.(T78M). Neurological examination revealed generalized hypotonia, proximal weakness and hypotrophy of the upper limbs, and proximal hypotrophy and calf hypetrophy of the lower limbs.
Variant has MAF = 0.008413 in gnomAD, including 8 homozygotes - VUS leaning Benign.
Acute rhabdomyolysis v2.18 CAV3 Ida Ertmanska Phenotypes for gene: CAV3 were changed from Rippling muscle disease, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321 to caveolinopathy MONDO:0016146; Myopathy, distal, Tateyama type, OMIM:614321; Rippling muscle disease 2, OMIM:606072; rippling muscle disease 2, MONDO:0019947; distal myopathy, Tateyama type, MONDO:0013686
Acute rhabdomyolysis v2.17 CAV3 Ida Ertmanska Publications for gene: CAV3 were set to 12666119; 15668980; 11251997; 27312022; 16730439; 9536092
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska changed review comment from: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).; to: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).

PMID: 18253147 Traverso et al., 2008
Patient 1, a 58yo female, affected by dilated cardiomyopathy and limb girdle muscular dystrophy (LGMD)-1C, showed an autosomal recessive mutation CAV3 c.233C>T, p.(T78M). Neurological examination revealed generalized hypotonia, proximal weakness and hypotrophy of the upper limbs, and proximal hypotrophy and calf hypetrophy of the lower limbs.
Variant has MAF = 0.008413 in gnomAD, including one homozygote - VUS leaning Benign.
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska edited their review of gene: CAV3: Changed publications to: 9536092, 12666119, 15668980, 16730439, 18253147, 37166430
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska edited their review of gene: CAV3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska changed review comment from: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).; to: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska commented on gene: CAV3: PMID: 37166430 Berling et al., 2023
Report of 23 patients from 16 unrelated families (from France, Portugal, Belgium, and Algeria) with CAV3 mutations. 52% of individuals had exercise intolerance, 80% showed calf hypertrophy, and muscle rippling was seen in 65%. No cardiac or respiratory involvement noted in this cohort. CK was elevated in all patients.
2 of 23 patients were homozygous for CAV3 mutations - table claims it's patients 6 & 7:
P6 - French male, disease onset at 20yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4). No muscle weakness, only symptom was exercise intolerance.
P7 - Portugese male, NOT SYMPTOMATIC at 49 yrs; homozygous for CAV3: c.427_431del, p.Ile143Glyfs*55 (not in gnomAD v4).
However, text says the CAV3: c.427_431del variant was homozygous in 2 sibs with rippling muscle and calf hypertrophy from Family F (P7 and P13).
Acute rhabdomyolysis v2.16 CAV3 Ida Ertmanska reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536092, 12666119, 15668980, 16730439; Phenotypes: caveolinopathy MONDO:0016146, Myopathy, distal, Tateyama type, OMIM:614321, Rippling muscle disease 2, OMIM:606072, rippling muscle disease 2, MONDO:0019947, distal myopathy, Tateyama type, MONDO:0013686; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Acute rhabdomyolysis v0.6 CAV3 Arina Puzriakova edited their review of gene: CAV3: Added comment: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Acute rhabdomyolysis v0.5 CAV3 Arina Puzriakova Added comment: Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has been set to 'both mono and biallelic'.
Acute rhabdomyolysis v0.5 CAV3 Arina Puzriakova Mode of inheritance for gene: CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Acute rhabdomyolysis v0.2 CAV3 Arina Puzriakova gene: CAV3 was added
gene: CAV3 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAV3 were set to 12666119; 15668980; 11251997; 27312022; 16730439; 9536092
Phenotypes for gene: CAV3 were set to Rippling muscle disease, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321