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Parkinson Disease and Complex Parkinsonism v1.120 | HTT_CAG | Achchuthan Shanmugasundram Tag anticipation was removed from STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.105 | HTT_CAG | Arina Puzriakova commented on STR: HTT_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.105 | HTT_CAG | Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.105 | HTT_CAG | Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.94 | HTT_CAG |
Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source NHS GMS was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Parkinson Disease and Complex Parkinsonism v1.88 | HTT | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.88 | HTT | Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.87 | HTT | Arina Puzriakova Phenotypes for gene: HTT were changed from Huntingtons disease (HD) to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.86 | HTT_CAG | Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.67 | PTRHD1 |
Helen Brittain gene: PTRHD1 was added gene: PTRHD1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Other Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRHD1 were set to 30398675; 27134041; 29143421; 27753167 Phenotypes for gene: PTRHD1 were set to Intellectual disability; Parkinsonism Penetrance for gene: PTRHD1 were set to Complete Review for gene: PTRHD1 was set to GREEN Added comment: Please see review in ID panel by Konstantinos Varvagiannis: https://panelapp.genomicsengland.co.uk/panels/285/gene/PTRHD1/ In addition: Personal correspondence about a new diagnosis from within the 100,000 genomes project data. A child presenting with learning difficulties, autism, shuffling gait, calf wasting and normal CK has been detected as having homozygous LOF variants in PTRHD1. Reported as class V via NHS diagnostic lab. In view of this additional case and phenotypic overlap (Intellectual disability and Parkinsonian features), I am adding this gene to the panel as green. Sources: Other |
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Parkinson Disease and Complex Parkinsonism v1.47 | HTT_CAG | Arianna Tucci commented on STR: HTT_CAG: Threshold changes to 40 repeats following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.47 | HTT_CAG | Arianna Tucci Marked STR: HTT_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.47 | HTT_CAG | Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism v1.47 | HTT_CAG |
Arianna Tucci Normal Number of Repeats for HTT_CAG was changed from 36 to 40. Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40. |
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Parkinson Disease and Complex Parkinsonism | HTT | Ellen McDonagh commented on STR: HTT_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Arianna Tucci classified HTT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Ellen McDonagh edited their review of STR: HTT_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Ellen McDonagh Added STR to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Ellen McDonagh marked HTT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Arianna Tucci commented on HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Parkinson Disease and Complex Parkinsonism | HTT | Alice Gardham commented on HTT |