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| Hereditary Neuropathy - complex v1.19 | BAG3 |
Chirag Patel edited their review of gene: BAG3: Added comment: PMID: 37907725 7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed. PMID: 31853710 2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed. PMID: 30145633 1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed. PMID: 28754666 9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; Changed publications: PMID: 37907725, 31853710, 30145633, 28754666 |
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| Hereditary Neuropathy - complex v1.19 | BAG3 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.19 | BAG3 |
Chirag Patel changed review comment from: PMID: 37907725 7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed. PMID: 31853710 2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed. PMID: 30145633 1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed. PMID: 28754666 9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; to: PMID: 37907725 7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed. PMID: 31853710 2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed. PMID: 30145633 1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed. PMID: 28754666 9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed. |
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| Hereditary Neuropathy - complex v1.19 | BAG3 | Chirag Patel reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, PMID: 31853710; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.161 | BAG3 | Zornitza Stark Marked gene: BAG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.161 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.161 | BAG3 | Zornitza Stark Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.160 | BAG3 | Zornitza Stark Publications for gene: BAG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.159 | BAG3 | Zornitza Stark Classified gene: BAG3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.159 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.149 | BAG3 | Sangavi Sivagnanasundram reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19085932; Phenotypes: Myopathy, myofibrillar, 6 (MIM#612954, MONDO:0013061); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | BAG3 |
Bryony Thompson gene: BAG3 was added gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN |
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