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Amyotrophic lateral sclerosis/motor neuron disease v1.69 | OPTN |
Arina Puzriakova Added comment: Comment on publications: PMID: 26566915 - "Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype." PMID: 26503823 PMID: 26303227 "We conclude that: (i) OPTN mutations are associated with ALS (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration." PMID: 26203661 PMID: 25943890 PMID: 25859013 - functional evidence PMID: 25681989 |
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Amyotrophic lateral sclerosis/motor neuron disease v1.69 | OPTN | Arina Puzriakova Publications for gene: OPTN were set to PMID: 26566915 - "Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype."; PMID: 26503823; PMID: 26303227 "We conclude that: (i) OPTN mutations are associated with ALS; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration."; PMID: 26203661; PMID: 25943890; PMID: 25859013 - functional evidence; PMID: 25681989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.56 | C9orf72_GGGGCC | Eleanor Williams commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.55 | C9orf72_GGGGCC | Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.55 | C9orf72_GGGGCC | Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.51 | C9orf72_GGGGCC |
Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Source NHS GMS was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Amyotrophic lateral sclerosis/motor neuron disease v1.46 | C9orf72_GGGGCC | Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.45 | C9orf72 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.45 | C9orf72 | Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.44 | C9orf72 | Arina Puzriakova Publications for gene: C9orf72 were set to PMID: 21944778; 21944779; 25638642; 27059391; 23597494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.43 | C9orf72 | Arina Puzriakova Phenotypes for gene: C9orf72 were changed from Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; Hexanucleotide repeat expansion; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; amyotrophic lateral sclerosis; frontotemporal dementia; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.42 | C9orf72 | Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: C9orf72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.24 | C9orf72_GGGGCC | Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Ellen McDonagh commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Ellen McDonagh commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Arianna Tucci classified C9orf72 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Arianna Tucci classified C9orf72 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Arianna Tucci classified C9orf72 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Ellen McDonagh edited their review of STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease | C9orf72 | Ellen McDonagh Added STR to panel |