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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 |
Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene. The 'founder-effect' tag has been added as the same variant has been identified across populations. Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene. The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations. Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 |
Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene. Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene. The 'founder-effect' tag has been added as the same variant has been identified across populations. Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 | Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: ANXA11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 | Achchuthan Shanmugasundram Classified gene: ANXA11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in ANXA11 gene to limb-girdle syndrome. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 | ANXA11 | Achchuthan Shanmugasundram Gene: anxa11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 | ANXA11 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ANXA11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 | ANXA11 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619733). OMIM was accessed on 30 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 | ANXA11 | Achchuthan Shanmugasundram Phenotypes for gene: ANXA11 were changed from Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.14 | ANXA11 |
Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene. Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.14 | ANXA11 |
Achchuthan Shanmugasundram gene: ANXA11 was added gene: ANXA11 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANXA11 were set to 34048612; 36134701; 36651622; 40730020 Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 Review for gene: ANXA11 was set to GREEN Added comment: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging. PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities. Sources: Literature |
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