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Parkinson Disease and Complex Parkinsonism v1.108 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Parkinson Disease and Complex Parkinsonism v1.108 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Parkinson Disease and Complex Parkinsonism v1.108 GBA Sarah Leigh commented on gene: GBA
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway changed review comment from: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases outweigh these issues?; to: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases who also have PD outweigh these issues?
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway changed review comment from: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical PD cases outweigh these issues?; to: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases outweigh these issues?
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway reviewed gene: GBA: Rating: RED; Mode of pathogenicity: None; Publications: 29385658; Phenotypes: ; Mode of inheritance: None
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism GBA alisdair mcneill reviewed GBA
Parkinson Disease and Complex Parkinsonism GBA Arianna Tucci reviewed GBA
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as amber
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh marked GBA as ready
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as red
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh commented on GBA