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| Adult onset neurodegenerative disorder v2.59 | CHMP2B |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: familial frontotemporal lobar degeneration (ALS17);Dystonia;Frontotemporal Dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Dementia, familial, nonspecific, 600795;Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696;Amyotrophic lateral sclerosis 17, 614696 |
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| Adult onset neurodegenerative disorder v2.59 | CHMP2B | Ivone Leong Phenotypes for gene: CHMP2B were changed from familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal Dementia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dementia, familial, nonspecific, 600795; Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Amyotrophic lateral sclerosis 17, 614696 to Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | CHMP2B | Louise Daugherty commented on gene: CHMP2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.100 | CHMP2B | Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | CHMP2B | Tracy Lester reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: familial frontotemporal lobar degeneration (ALS17), Dystonia, Frontotemporal Dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Dementia, familial, nonspecific, 600795, Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696, Amyotrophic lateral sclerosis 17, 614696; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | CHMP2B | Louise Daugherty Publications for gene CHMP2B were changed from 20352044 to 16041373; 20352044; 17956895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.78 | CHMP2B | Louise Daugherty commented on gene: CHMP2B: Comment: - PMID: 20352044 conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.78 | CHMP2B | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.78 | CHMP2B | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.78 | CHMP2B | Louise Daugherty Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | CHMP2B | Louise Daugherty commented on gene: CHMP2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | CHMP2B | Nick Beauchamp reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16041373, 17956895; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | CHMP2B | Louise Daugherty Source Yorkshire and North East GLH was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | CHMP2B | Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | CHMP2B | James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | CHMP2B | Louise Daugherty Source NHS GMS was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | CHMP2B | Louise Daugherty Source London North GLH was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | CHMP2B | Rebecca Foulger Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | CHMP2B | Rebecca Foulger Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; familial frontotemporal lobar degeneration (ALS17); Dystonia for gene: CHMP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | CHMP2B |
Rebecca Foulger gene: CHMP2B was added gene: CHMP2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. Phenotypes for gene: CHMP2B were set to Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Frontotemporal Dementia |
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