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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 v1.120 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 23913003
Parkinson Disease and Complex Parkinsonism v1.119 PDGFB Sarah Leigh Classified gene: PDGFB as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.119 PDGFB Sarah Leigh Gene: pdgfb has been classified as Green List (High Evidence).
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 Classified gene: PDGFB as Amber List (moderate evidence)
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 v1.118 PDGFB Sarah Leigh Gene: pdgfb has been classified as Amber List (Moderate Evidence).
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 v1.116 DNAJC6 Sarah Leigh Publications for gene: DNAJC6 were set to 26528954; 27687717; 26703368; 22563501; 23211418
Parkinson Disease and Complex Parkinsonism v1.115 DNAJC6 Sarah Leigh Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
Parkinson Disease and Complex Parkinsonism v1.114 COASY Sarah Leigh Publications for gene: COASY were set to 28489334; 24360804
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 Classified gene: COASY as Amber List (moderate evidence)
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 v1.113 COASY Sarah Leigh Gene: coasy has been classified as Amber List (Moderate Evidence).
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 v1.111 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from ?Waisman syndrome; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510; early-onset parkinsonism and intellectual disability
Parkinson Disease and Complex Parkinsonism v1.110 TBP_CAG Sarah Leigh Publications for STR: TBP_CAG were set to 20301611
Parkinson Disease and Complex Parkinsonism v1.109 TBP Sarah Leigh Publications for gene: TBP were set to
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 v1.108 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 v1.106 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Parkinson Disease and Complex Parkinsonism v1.105 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Parkinson Disease and Complex Parkinsonism v1.105 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Parkinson Disease and Complex Parkinsonism v1.105 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Parkinson Disease and Complex Parkinsonism v1.105 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism v1.105 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATN1_CAG Ivone Leong commented on STR: ATN1_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 v1.104 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.104 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Str: atn1_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 v1.94 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
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 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
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 v1.94 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_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 v1.92 PPP2R2B_CAG Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Parkinson Disease and Complex Parkinsonism v1.91 TBP_CAG Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Parkinson Disease and Complex Parkinsonism v1.90 TBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.90 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 v1.89 TBP Arina Puzriakova Phenotypes for gene: TBP were changed from Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Parkinson Disease and Complex Parkinsonism v1.88 TBP Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: TBP.
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 v1.85 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Parkinson Disease and Complex Parkinsonism v1.84 JPH3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.84 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 v1.83 JPH3 Arina Puzriakova Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Parkinson Disease and Complex Parkinsonism v1.82 JPH3_CTG Arina Puzriakova Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Parkinson Disease and Complex Parkinsonism v1.81 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
Parkinson Disease and Complex Parkinsonism v1.80 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.79 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 v1.78 C9orf72 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: C9orf72.
Parkinson Disease and Complex Parkinsonism v1.78 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Parkinson Disease and Complex Parkinsonism v1.77 ATXN3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.77 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 v1.76 ATXN3 Arina Puzriakova Phenotypes for gene: ATXN3 were changed from (CAGexpansion); familial parkinsonism to Machado-Joseph disease, OMIM:109150; Susceptibility to Late-Onset Parkinson Disease
Parkinson Disease and Complex Parkinsonism v1.75 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Parkinson Disease and Complex Parkinsonism v1.74 ATXN2 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Parkinson Disease and Complex Parkinsonism v1.74 ATXN2 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.74 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 v1.73 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from (CAGexpansion); familial parkinsonism to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Parkinson Disease and Complex Parkinsonism v1.72 ATN1_CAG Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
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 v1.70 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to} to {?Parkinson disease 5, susceptibility to}, OMIM:613643
Parkinson Disease and Complex Parkinsonism v1.69 EPHB4 Arina Puzriakova Tag curated_removed tag was added to gene: EPHB4.
Parkinson Disease and Complex Parkinsonism v1.69 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); primary torsion dystonia (DYT1), early-onset isolated dystonia to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
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 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism.
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 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 17435591
Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900
Review for gene: ATP7B was set to GREEN
gene: ATP7B was marked as current diagnostic
Added comment: Parkinsonism is a prominent neurological feature of Wilson disease.
Sources: Expert list
Parkinson Disease and Complex Parkinsonism v1.68 PTRHD1 Helen Brittain Marked gene: PTRHD1 as ready
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 v1.68 PTRHD1 Helen Brittain Gene: ptrhd1 has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.68 PTRHD1 Helen Brittain Classified gene: PTRHD1 as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.68 PTRHD1 Helen Brittain Gene: ptrhd1 has been classified as Green List (High Evidence).
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 v1.64 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia1 164400 to Spinocerebellar ataxia 1 164400
Parkinson Disease and Complex Parkinsonism v1.63 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia1 164400
Parkinson Disease and Complex Parkinsonism v1.62 PPP2R2B_CAG Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326
Parkinson Disease and Complex Parkinsonism v1.61 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Parkinson Disease and Complex Parkinsonism v1.60 ATN1_CAG Arianna Tucci Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370
Parkinson Disease and Complex Parkinsonism v1.59 ATN1_CAG Arianna Tucci Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.59 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
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 v1.57 PPP2R2B_CAG Louise Daugherty Tag STR tag was added to STR: PPP2R2B_CAG.
Parkinson Disease and Complex Parkinsonism v1.57 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Parkinson Disease and Complex Parkinsonism v1.57 ATN1_CAG Louise Daugherty Tag STR tag was added to STR: ATN1_CAG.
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Marked STR: PPP2R2B_CAG as ready
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as 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 v1.56 PPP2R2B_CAG Arianna Tucci STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert Review
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Sources: Expert Review
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
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 v1.55 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.54 TBP_CAG Arianna Tucci Normal Number of Repeats for TBP_CAG was changed from 40 to 41.
Parkinson Disease and Complex Parkinsonism v1.53 ATXN3_CAG Arianna Tucci Marked STR: ATXN3_CAG as ready
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 v1.53 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.53 ATXN3_CAG Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.53 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.52 ATXN2_CAG Arianna Tucci Marked STR: ATXN2_CAG as ready
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 v1.52 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.52 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.52 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.51 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
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 v1.51 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.51 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.51 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.50 ATXN1_CAG Arianna Tucci STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert Review
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: ATXN1_CAG was marked as clinically relevant
STR: ATXN1_CAG was marked as current diagnostic
Parkinson Disease and Complex Parkinsonism v1.49 ATN1_CAG Arianna Tucci Marked STR: ATN1_CAG as ready
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 v1.49 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Red List (Low Evidence).
Parkinson Disease and Complex Parkinsonism v1.49 ATN1_CAG Arianna Tucci STR: ATN1_CAG was added
STR: ATN1_CAG was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert Review
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Parkinson Disease and Complex Parkinsonism v1.48 JPH3_CTG Arianna Tucci Classified STR: JPH3_CTG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.48 JPH3_CTG Arianna Tucci Str: jph3_ctg has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.47 JPH3_CTG Arianna Tucci Marked STR: JPH3_CTG as ready
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 JPH3_CTG Arianna Tucci Str: jph3_ctg has been classified as Red List (Low Evidence).
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 v1.46 C9orf72_GGGGCC Arianna Tucci Marked STR: C9orf72_GGGGCC as ready
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 v1.46 C9orf72_GGGGCC Arianna Tucci Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism LYST Louise Daugherty classified LYST as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism JPH3 Ellen McDonagh commented on STR: JPH3_CTG
Parkinson Disease and Complex Parkinsonism HTT Ellen McDonagh commented on STR: HTT_CAG
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh commented on STR: TBP_CAG
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism HTT Arianna Tucci classified HTT as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism LYST Ellen McDonagh classified LYST as Amber List (moderate evidence)
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh commented on STR: TBP_CAG
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh Added STR to panel
Parkinson Disease and Complex Parkinsonism JPH3 Ellen McDonagh Added STR to panel
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 C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh Added STR to panel
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh Added STR to panel
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh Added STR to panel
Parkinson Disease and Complex Parkinsonism LYST alisdair mcneill Added gene to panel
Parkinson Disease and Complex Parkinsonism GBA alisdair mcneill reviewed GBA
Parkinson Disease and Complex Parkinsonism ATP6AP2 Sarah Leigh Added gene to panel
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty classified OPA3 as green
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty added OPA3 to panel
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty reviewed OPA3
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as grey
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as red
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh edited their review of MAPT
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as grey
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty commented on EPHB4
Parkinson Disease and Complex Parkinsonism C9ORF72 Louise Daugherty classified C9ORF72* as red
Parkinson Disease and Complex Parkinsonism JPH3 Arianna Tucci added JPH3 to panel
Parkinson Disease and Complex Parkinsonism JPH3 Arianna Tucci reviewed JPH3
Parkinson Disease and Complex Parkinsonism PARK2 Louise Daugherty commented on PARK2
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh classified SLC39A14 as green
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh added SLC39A14 to panel
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh reviewed SLC39A14
Parkinson Disease and Complex Parkinsonism Ellen McDonagh promoted panel to version 1
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh marked LRRK2 as ready
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh classified C9ORF72* as grey
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh commented on C9ORF72*
Parkinson Disease and Complex Parkinsonism C9orf72 Arianna Tucci reviewed C9orf72
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh marked FTL as ready
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh marked UCHL1 as ready
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh marked SNCAIP as ready
Parkinson Disease and Complex Parkinsonism IPPK Ellen McDonagh marked IPPK as ready
Parkinson Disease and Complex Parkinsonism HTT Ellen McDonagh marked HTT as ready
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh marked HTRA2 as ready
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh marked CHCHD2 as ready
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh marked VPS35 as ready
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh marked VPS13A as ready
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh marked TUBB4A as ready
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as green
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh marked TOR1A as ready
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh marked THAP1 as ready
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh marked SYNJ1 as ready
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh marked SPG11 as ready
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh marked SLC30A10 as ready
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh marked SGCE as ready
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh marked RAB39B as ready
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh marked PRKRA as ready
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh marked GRN as ready
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh marked GNAL as ready
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh marked DNAJC6 as ready
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh marked CSF1R as ready
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh classified CSF1R as green
Parkinson Disease and Complex Parkinsonism UCHL1 Arianna Tucci reviewed UCHL1
Parkinson Disease and Complex Parkinsonism TBP Arianna Tucci commented on TBP
Parkinson Disease and Complex Parkinsonism SNCAIP Arianna Tucci reviewed SNCAIP
Parkinson Disease and Complex Parkinsonism SLC41A1 Arianna Tucci reviewed SLC41A1
Parkinson Disease and Complex Parkinsonism NR4A2 Arianna Tucci reviewed NR4A2
Parkinson Disease and Complex Parkinsonism IPPK Arianna Tucci reviewed IPPK
Parkinson Disease and Complex Parkinsonism HTT Arianna Tucci commented on HTT
Parkinson Disease and Complex Parkinsonism HTRA2 Arianna Tucci commented on HTRA2
Parkinson Disease and Complex Parkinsonism GIGYF2 Arianna Tucci reviewed GIGYF2
Parkinson Disease and Complex Parkinsonism GBA Arianna Tucci reviewed GBA
Parkinson Disease and Complex Parkinsonism EIF4G1 Arianna Tucci reviewed EIF4G1
Parkinson Disease and Complex Parkinsonism CHCHD2 Arianna Tucci reviewed CHCHD2
Parkinson Disease and Complex Parkinsonism C9ORF72 Arianna Tucci reviewed C9ORF72*
Parkinson Disease and Complex Parkinsonism ATXN3 Arianna Tucci reviewed ATXN3
Parkinson Disease and Complex Parkinsonism ATXN2 Arianna Tucci reviewed ATXN2
Parkinson Disease and Complex Parkinsonism VPS35 Arianna Tucci reviewed VPS35
Parkinson Disease and Complex Parkinsonism VPS13A Arianna Tucci reviewed VPS13A
Parkinson Disease and Complex Parkinsonism TUBB4A Arianna Tucci reviewed TUBB4A
Parkinson Disease and Complex Parkinsonism TOR1A Arianna Tucci reviewed TOR1A
Parkinson Disease and Complex Parkinsonism THAP1 Arianna Tucci reviewed THAP1
Parkinson Disease and Complex Parkinsonism TAF1 Arianna Tucci reviewed TAF1
Parkinson Disease and Complex Parkinsonism SYNJ1 Arianna Tucci reviewed SYNJ1
Parkinson Disease and Complex Parkinsonism SPG11 Arianna Tucci reviewed SPG11
Parkinson Disease and Complex Parkinsonism SLC30A10 Arianna Tucci reviewed SLC30A10
Parkinson Disease and Complex Parkinsonism SGCE Arianna Tucci reviewed SGCE
Parkinson Disease and Complex Parkinsonism RAB39B Arianna Tucci reviewed RAB39B
Parkinson Disease and Complex Parkinsonism PRKRA Arianna Tucci reviewed PRKRA
Parkinson Disease and Complex Parkinsonism LRRK2 Arianna Tucci reviewed LRRK2
Parkinson Disease and Complex Parkinsonism GRN Arianna Tucci reviewed GRN
Parkinson Disease and Complex Parkinsonism GNAL Arianna Tucci reviewed GNAL
Parkinson Disease and Complex Parkinsonism DNAJC6 Arianna Tucci reviewed DNAJC6
Parkinson Disease and Complex Parkinsonism CSF1R Arianna Tucci reviewed CSF1R
Parkinson Disease and Complex Parkinsonism SPR Arianna Tucci reviewed SPR
Parkinson Disease and Complex Parkinsonism ATP1A3 Arianna Tucci reviewed ATP1A3
Parkinson Disease and Complex Parkinsonism ANO3 Arianna Tucci reviewed ANO3
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh classified GIGYF2 as red
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as amber
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh commented on CHCHD2
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh classified CHCHD2 as amber
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh classified ATXN3 as red
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh classified ATXN2 as red
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as green
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh classified VPS13A as green
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as red
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as red
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh classified SYNJ1 as green
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh classified SPG11 as green
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh classified SLC30A10 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as red
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as green
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as green
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh classified GRN as green
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as red
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh classified DNAJC6 as green
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as red
Parkinson Disease and Complex Parkinsonism HTT Alice Gardham commented on HTT
Parkinson Disease and Complex Parkinsonism WDR45 Arianna Tucci reviewed WDR45
Parkinson Disease and Complex Parkinsonism TH Arianna Tucci reviewed TH
Parkinson Disease and Complex Parkinsonism SNCA Arianna Tucci reviewed SNCA
Parkinson Disease and Complex Parkinsonism SLC6A3 Arianna Tucci reviewed SLC6A3
Parkinson Disease and Complex Parkinsonism PLA2G6 Arianna Tucci reviewed PLA2G6
Parkinson Disease and Complex Parkinsonism PINK1 Arianna Tucci reviewed PINK1
Parkinson Disease and Complex Parkinsonism PARK7 Arianna Tucci reviewed PARK7
Parkinson Disease and Complex Parkinsonism PARK2 Arianna Tucci reviewed PARK2
Parkinson Disease and Complex Parkinsonism PANK2 Arianna Tucci reviewed PANK2
Parkinson Disease and Complex Parkinsonism MAPT Arianna Tucci reviewed MAPT
Parkinson Disease and Complex Parkinsonism MAPT Arianna Tucci reviewed MAPT
Parkinson Disease and Complex Parkinsonism GCH1 Arianna Tucci reviewed GCH1
Parkinson Disease and Complex Parkinsonism FTL Arianna Tucci reviewed FTL
Parkinson Disease and Complex Parkinsonism FBXO7 Arianna Tucci reviewed FBXO7
Parkinson Disease and Complex Parkinsonism DCTN1 Arianna Tucci reviewed DCTN1
Parkinson Disease and Complex Parkinsonism C19orf12 Arianna Tucci reviewed C19orf12
Parkinson Disease and Complex Parkinsonism ATP13A2 Arianna Tucci reviewed ATP13A2
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Parkinson Disease and Complex Parkinsonism HTRA2 Rebecca Foulger commented on HTRA2
Parkinson Disease and Complex Parkinsonism SYNJ1 Rebecca Foulger commented on SYNJ1
Parkinson Disease and Complex Parkinsonism EIF4G1 Rebecca Foulger commented on EIF4G1
Parkinson Disease and Complex Parkinsonism RAB39B Rebecca Foulger commented on RAB39B
Parkinson Disease and Complex Parkinsonism DNAJC6 Rebecca Foulger commented on DNAJC6
Parkinson Disease and Complex Parkinsonism LRRK2 Rebecca Foulger commented on LRRK2
Parkinson Disease and Complex Parkinsonism VPS35 Rebecca Foulger commented on VPS35
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh classified VPS13A as amber
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh commented on VPS13A
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh classified UCHL1 as red
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh commented on UCHL1
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh marked TBP as ready
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh classified TBP as red
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh classified SYNJ1 as amber
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh commented on SYNJ1
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh classified SPG11 as amber
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh commented on SPG11
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh classified SNCAIP as red
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh commented on SNCAIP
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh marked SLC41A1 as ready
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh classified SLC41A1 as red
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh commented on SLC41A1
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh classified SLC30A10 as amber
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh commented on SLC30A10
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as amber
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as red
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh commented on RAB39B
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as amber
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh commented on PRKRA
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as amber
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh marked NR4A2 as ready
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh classified NR4A2 as red
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh commented on NR4A2
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh classified GRN as amber
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh commented on GRN
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as amber
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh marked GIGYF2 as ready
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh classified GIGYF2 as red
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh commented on GIGYF2
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
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh marked EIF4G1 as ready
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh classified EIF4G1 as red
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh commented on EIF4G1
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh classified DNAJC6 as amber
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh commented on DNAJC6
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh classified CSF1R as amber
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh marked ATXN3 as ready
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh classified FTL as green
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh commented on FTL
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh marked C9orf72 as ready
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh classified ATXN3 as red
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh marked ATXN2 as ready
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh classified ATXN2 as red
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh marked WDR45 as ready
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh classified WDR45 as green
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as amber
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as amber
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as amber
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as green
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 SPR Ellen McDonagh marked SPR as ready
Parkinson Disease and Complex Parkinsonism SPR Ellen McDonagh classified SPR as green
Parkinson Disease and Complex Parkinsonism SNCA Ellen McDonagh marked SNCA as ready
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh marked SLC6A3 as ready
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh classified SLC6A3 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as amber
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh marked PLA2G6 as ready
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh classified PLA2G6 as green
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh marked PINK1 as ready
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh classified PINK1 as green
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh marked PARK7 as ready
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh classified PARK7 as green
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh marked PARK2 as ready
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh classified PARK2 as green
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh marked PANK2 as ready
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh classified PANK2 as green
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh marked MAPT as ready
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh classified MAPT as green
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as red
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh marked GCH1 as ready
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh classified GCH1 as green
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh marked FBXO7 as ready
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh classified FBXO7 as green
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh marked DCTN1 as ready
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh classified DCTN1 as green
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh marked C19orf12 as ready
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh classified C19orf12 as green
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh marked ATP1A3 as ready
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh classified ATP1A3 as green
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh marked ATP13A2 as ready
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh classified ATP13A2 as green
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh marked ANO3 as ready
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as green
Parkinson Disease and Complex Parkinsonism Ellen McDonagh approved panel
Parkinson Disease and Complex Parkinsonism SNCA Ellen McDonagh classified SNCA as green
Parkinson Disease and Complex Parkinsonism TAF1 Ellen McDonagh classified TAF1 as amber
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as amber
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh classified WDR45 as green
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as green
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as green
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A 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
Parkinson Disease and Complex Parkinsonism SPR Ellen McDonagh classified SPR as green
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh classified SLC6A3 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as green
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh classified PLA2G6 as green
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh classified PINK1 as green
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh classified PARK7 as green
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh classified PARK2 as green
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh classified PANK2 as green
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh classified MAPT as green
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh classified GCH1 as green
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh classified FBXO7 as green
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh classified DCTN1 as green
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh classified C19orf12 as green
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh classified ATP1A3 as green
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh classified ATP13A2 as green
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as green