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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)
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
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.
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