Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.39 | PABPN1_GCN |
Ida Ertmanska changed review comment from: PMID: 27858728 Richard et al., 2015 Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele. PMID: 28011929 Richard et al., 2017 French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings: 1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s. 2. Patients with biallelic variants present with more severe disease. 3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature; to: PMID: 27858728 Richard et al., 2015 Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele. PMID: 28011929 Richard et al., 2017 French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings: 1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s. 2. Patients with biallelic variants present with more severe disease. 3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation with low penetrance. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.39 | PABPN1_GCN | Ida Ertmanska Mode of inheritance for STR: PABPN1_GCN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.38 | PABPN1_GCN | Ida Ertmanska PABPN1_CGN was changed to PABPN1_GCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.37 | PABPN1_CGN | Ida Ertmanska Repeated Sequence for PABPN1_CGN was changed from CGN to GCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.36 | PABPN1_CGN | Ida Ertmanska edited their review of STR: PABPN1_CGN: Changed publications to: 27858728, 28011929; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.36 | PABPN1_CGN | Ida Ertmanska Publications for STR: PABPN1_CGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 | PABPN1_CGN |
Ida Ertmanska changed review comment from: Sources: Literature; to: PMID: 27858728 Richard et al., 2015 Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele. PMID: 28011929 Richard et al., 2017 French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings: 1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s. 2. Patients with biallelic variants present with more severe disease. 3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 | PABPN1_CGN | Ida Ertmanska edited their review of STR: PABPN1_CGN: Changed rating: GREEN; Changed publications to: 28011929 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 | PABPN1_CGN | Ida Ertmanska Classified STR: PABPN1_CGN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 | PABPN1_CGN | Ida Ertmanska Str: pabpn1_cgn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.34 | PABPN1_CGN |
Ida Ertmanska STR: PABPN1_CGN was added STR: PABPN1_CGN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for STR: PABPN1_CGN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for STR: PABPN1_CGN were set to Oculopharyngeal muscular dystrophy, OMIM:164300; oculopharyngeal muscular dystrophy, MONDO:0008116 Review for STR: PABPN1_CGN was set to AMBER Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.33 | PABPN1 | Ida Ertmanska Phenotypes for gene: PABPN1 were changed from Oculopharyngeal muscular dystrophy, OMIM:164300 to Oculopharyngeal muscular dystrophy, OMIM:164300; oculopharyngeal muscular dystrophy, MONDO:0008116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.32 | PABPN1 | Ida Ertmanska Publications for gene: PABPN1 were set to 16648376; 27858728; 34225694; 36847015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska edited their review of gene: PABPN1: Changed phenotypes to: Oculopharyngeal muscular dystrophy, OMIM:164300, oculopharyngeal muscular dystrophy, MONDO:0008116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska edited their review of gene: PABPN1: Changed publications to: 16648376, 21742497, 34225694, 36847015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 |
Ida Ertmanska changed review comment from: PMID: 16648376 Robinson et al., 2006 Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped). PMID: 21742497 Robinson et al., 2011 Report of 2 further cases with PABPN1 c.35G>C; p.Gly12Ala and OPMD. PMID: 34225694 Nishii et al., 2021 Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation. PMID: 36847015 Takahashi et al., 2023 Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature; to: PMID: 16648376 Robinson et al., 2006 Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped). PMID: 21742497 Robinson et al., 2011 Report of 2 further cases with heterozygous PABPN1 c.35G>C; p.Gly12Ala and OPMD diagnosis. Case 1 - male, bilateral ptosis and choking at 65 years old; no limb muscle weakness reported. Case 2 - female, onset of swallowing difficulty around age 60, ptosis onset at age 65 years, muscle weakness reported in 70s. No vacuoles seen on deltoid muscle biopsy. PMID: 34225694 Nishii et al., 2021 Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation. PMID: 36847015 Takahashi et al., 2023 Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.; to: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 contiguous alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 |
Ida Ertmanska changed review comment from: PMID: 16648376 Robinson et al., 2006 Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped). PMID: 34225694 Nishii et al., 2021 Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation. PMID: 36847015 Takahashi et al., 2023 Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature; to: PMID: 16648376 Robinson et al., 2006 Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped). PMID: 21742497 Robinson et al., 2011 Report of 2 further cases with PABPN1 c.35G>C; p.Gly12Ala and OPMD. PMID: 34225694 Nishii et al., 2021 Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation. PMID: 36847015 Takahashi et al., 2023 Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska edited their review of gene: PABPN1: Changed publications to: 16648376, 34225694, 36847015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska Classified gene: PABPN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska Added comment: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 | PABPN1 | Ida Ertmanska Gene: pabpn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.30 | PABPN1 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: PABPN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.30 | PABPN1 |
Ida Ertmanska gene: PABPN1 was added gene: PABPN1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: PABPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PABPN1 were set to 16648376; 27858728; 34225694; 36847015 Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy, OMIM:164300 Review for gene: PABPN1 was set to GREEN Added comment: PMID: 16648376 Robinson et al., 2006 Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped). PMID: 34225694 Nishii et al., 2021 Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation. PMID: 36847015 Takahashi et al., 2023 Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD. PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||