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Parkinson Disease and Complex Parkinsonism v1.121 PTRHD1 Arina Puzriakova Phenotypes for gene: PTRHD1 were changed from Intellectual disability; Parkinsonism to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Deleted their comment
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483), which includes Parkinsonism. No phenotype has been associated with PDGFB in Gen2Phen. PMID: 23913003 reports three unrelated cases of OMIM:615483 who have Parkinsonism, and PMID: 35747618 notes Parkinsonism in the proband's paternal grandmother and great grandmother, however, no genetic analysis was possible for these deceased family members.; Changed rating: GREEN
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Parkinson Disease and Complex Parkinsonism v1.117 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, MIM# 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
Parkinson Disease and Complex Parkinsonism v1.113 COASY Sarah Leigh edited their review of gene: COASY: Added comment: Associated with Neurodegeneration with brain iron accumulation 6 (OMIM: 615643) and as definitive Gen2Phen gene for neurodegeneration with brain iron accumulation.
PMID: 24360804 & 28489334 report three COASY variants in three unrelated cases of OMIM: 615643. Supportive functional studies were also presented (PMID: 24360804). The neurological features of case II-2 of family 2, included Parkinsonian features (rigidity and abnormal postural reflexes). (PMID: 24360804).; Changed rating: AMBER
Parkinson Disease and Complex Parkinsonism v1.113 COASY Sarah Leigh Deleted their comment
Parkinson Disease and Complex Parkinsonism v1.113 COASY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Parkinson Disease and Complex Parkinsonism v1.112 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, MIM# 615643 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290
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 C19orf12 Sarah Leigh Added comment: Comment on mode of inheritance: Monfrini et al (PMID: 29295770) and Gregory et al (PMID: 31087512) have reported heterozygous pathogenic C19ORF12 variants in patients with neurodegeneration with brain iron accumulation 4 (OMIM: 614298). Therefore, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Parkinson Disease and Complex Parkinsonism v1.108 C19orf12 Sarah Leigh Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism v1.107 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Dystonia; mitochondrial membrane protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 4 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Parkinson Disease and Complex Parkinsonism v1.94 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.94 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.94 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)
Parkinson Disease and Complex Parkinsonism v1.94 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.94 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.93 SLC30A10 Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia to Hypermanganesemia with dystonia 1, OMIM:613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Parkinson Disease and Complex Parkinsonism v1.90 TBP Arina Puzriakova Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
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 v1.84 JPH3 Arina Puzriakova Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Parkinson Disease and Complex Parkinsonism v1.77 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Parkinson Disease and Complex Parkinsonism v1.74 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Parkinson Disease and Complex Parkinsonism v1.71 CSF1R Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: 'diffuse leukoencephalopathy with spheroids, dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy'
Parkinson Disease and Complex Parkinsonism v1.71 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from diffuse leukoencephalopathy with spheroids; dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Parkinson Disease and Complex Parkinsonism v1.68 XPR1 Zornitza Stark gene: XPR1 was added
gene: XPR1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: XPR1 were set to 25938945
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, MIM# 616413
Review for gene: XPR1 was set to GREEN
gene: XPR1 was marked as current diagnostic
Added comment: Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterised by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions. At least 5 unrelated families reported.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 VPS13C Zornitza Stark gene: VPS13C was added
gene: VPS13C was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13C were set to 26942284; 30452786; 28862745
Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840
Review for gene: VPS13C was set to GREEN
gene: VPS13C was marked as current diagnostic
Added comment: >3 individuals with biallelic variants.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TWNK were set to 24076137; 22949510; 22580846; 19353676
Phenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Review for gene: TWNK was set to GREEN
gene: TWNK was marked as current diagnostic
Added comment: Greater than three cases reported with parkinsonism as a feature of the condition.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 SLC20A2 Zornitza Stark gene: SLC20A2 was added
gene: SLC20A2 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A2 were set to 22327515; 23334463
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Review for gene: SLC20A2 was set to GREEN
gene: SLC20A2 was marked as current diagnostic
Added comment: Over 50 families reported. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 23255827; 30979360
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Review for gene: PDGFRB was set to GREEN
gene: PDGFRB was marked as current diagnostic
Added comment: Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. Presentation is with parkinsonism and impaired cognitive function.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 PDGFB Zornitza Stark gene: PDGFB was added
gene: PDGFB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFB were set to 23913003
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5, MIM# 615483
Review for gene: PDGFB was set to GREEN
gene: PDGFB was marked as current diagnostic
Added comment: Progressive disorder characterised by neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. More than 10 families reported.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 PDE8B Zornitza Stark gene: PDE8B was added
gene: PDE8B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE8B were set to 20085714; 26769607; 26475694
Phenotypes for gene: PDE8B were set to Striatal degeneration, autosomal dominant, MIM#609161
Review for gene: PDE8B was set to GREEN
Added comment: Movement disorder due to basal ganglia abnormalities, at least three families reported with heterozygous variants in this gene.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 22978711; 21820099; 22235333
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
Review for gene: DNAJC5 was set to GREEN
Added comment: Parkinsonism has been described in some individuals with this progressive adult-onset neurodegenerative disorder. The (346_348delCTC) variant is recurrent, without evidence of founder effect.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 CP Zornitza Stark gene: CP was added
gene: CP was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 28012953
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Review for gene: CP was set to GREEN
Added comment: Parkinsonism is a prominent feature of the condition.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 28489334; 24360804
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, MIM# 615643
Review for gene: COASY was set to AMBER
Added comment: Extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism are prominent due to iron accumulation in the basal ganglia. 2 families reported.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN3 were set to 19489875; 11342698
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 MIM#204200
Review for gene: CLN3 was set to GREEN
gene: CLN3 was marked as current diagnostic
Added comment: Parkinsonism is a prominent feature of this condition.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 CHCHD2 Zornitza Stark reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32068847, 25662902, 31600778, 26705026; Phenotypes: Parkinson disease 22, autosomal dominant MIM#616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Parkinson Disease and Complex Parkinsonism v1.68 PTRHD1 Helen Brittain Added comment: Comment when marking as ready: Considered to have sufficient cases with a relevant phenotype for a green rating.
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 v1.66 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 v1.58 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.56 PPP2R2B_CAG Arianna Tucci commented on STR: PPP2R2B_CAG: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.53 ATXN3_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.52 ATXN2_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.51 ATXN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.49 ATN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.47 JPH3_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
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 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 v1.46 C9orf72_GGGGCC Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism HTT Ellen McDonagh edited their review of STR: HTT_CAG
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh edited their review of MAPT
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh marked THAP1 as ready
Parkinson Disease and Complex Parkinsonism THAP1 Arianna Tucci reviewed THAP1
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as red
Parkinson Disease and Complex Parkinsonism TH Arianna Tucci reviewed TH
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as amber
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh marked TH as ready
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh classified TH as green
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as green
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh classified TH as green