Activity

Filter

Cancel
Date Panel Item Activity
51 actions
Adult onset dystonia, chorea or related movement disorder v1.166 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset dystonia, chorea or related movement disorder v1.162 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Adult onset dystonia, chorea or related movement disorder v1.150 HTT Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Adult onset dystonia, chorea or related movement disorder v1.150 HTT Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Adult onset dystonia, chorea or related movement disorder v1.149 HTT Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease to Huntington disease, OMIM:143100
Adult onset dystonia, chorea or related movement disorder v1.148 HTT Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Adult onset dystonia, chorea or related movement disorder v1.148 HTT_CAG Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Adult onset dystonia, chorea or related movement disorder v1.123 GBA Arina Puzriakova changed review comment from: GBA included on this panel to capture association with Parkinson disease (PD). However, GBA is only a risk factor and variants do not cause highly penetrant forms of PD. For these reasons, GBA was given an Amber rating on the 'Neurodegenerative disorders - adult onset' (R58) panel (https://panelapp.genomicsengland.co.uk/panels/474/gene/GBA/). Furthermore, issues regarding interpretation a GBA variant in the context of PD have been highlighted in the 100K (see Alison Callaway review on 100K PD panel - https://panelapp.genomicsengland.co.uk/panels/39/gene/GBA/). Given the potential carrier implications, inclusion of this gene will be flagged for review at the next GMS panel update.; to: GBA included on this panel to capture association with Parkinson disease (PD). However, variants do not cause highly penetrant forms of PD and for these reasons, GBA was given an Amber rating on the 'Neurodegenerative disorders - adult onset' (R58) panel (https://panelapp.genomicsengland.co.uk/panels/474/gene/GBA/). Furthermore, issues regarding interpretation a GBA variant in the context of PD have been highlighted in the 100K (see Alison Callaway review on 100K PD panel - https://panelapp.genomicsengland.co.uk/panels/39/gene/GBA/). Given that GBA is only a PD risk factor and the potential carrier implications, inclusion of this gene will be flagged for review at the next GMS panel update.
Adult onset dystonia, chorea or related movement disorder v1.89 SPR Arina Puzriakova Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Adult onset dystonia, chorea or related movement disorder v1.76 PRKRA Arina Puzriakova Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Adult onset dystonia, chorea or related movement disorder v1.45 FTL Arina Puzriakova Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Adult onset dystonia, chorea or related movement disorder v1.20 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Adult onset dystonia, chorea or related movement disorder v1.12 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as No list
Adult onset dystonia, chorea or related movement disorder v1.12 HTT_CAG Arina Puzriakova Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.
Adult onset dystonia, chorea or related movement disorder v1.12 HTT_CAG Arina Puzriakova Str: htt_cag has been removed from the panel.
Adult onset dystonia, chorea or related movement disorder v0.95 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.88 HTT Louise Daugherty edited their review of gene: HTT: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR HTT_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.; Changed rating: RED
Adult onset dystonia, chorea or related movement disorder v0.56 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Adult onset dystonia, chorea or related movement disorder v0.55 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR
Adult onset dystonia, chorea or related movement disorder v0.55 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.50 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 TAF1 Emily Jones reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12928496, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26637982, 26879577, 26637982, 17668393, 17273961, 12928496, 17273961, 23184149, 2368812, 20301662, 26769797; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset dystonia, chorea or related movement disorder v0.49 HTT Emily Jones reviewed gene: HTT: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 GNAL Emily Jones reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222958, 27093447, 27222887, 24729450, 26725140, 23759320, 27123488, 24151159, 23449625, 25847575, 26810727, 24408567, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26365774, 26506956, 25382112, 24535567; Phenotypes: Dystonia 25, 615073, adult-onset cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.48 TAF1 Louise Daugherty Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1
Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496
Adult onset dystonia, chorea or related movement disorder v0.48 HTT Louise Daugherty Added phenotypes Huntington disease for gene: HTT
Adult onset dystonia, chorea or related movement disorder v0.48 GNAL Louise Daugherty Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 to 23449625; 26810727; 23222958; 25847575; 26725140; 27123488; 24408567; 26365774; 25382112; 27093447; 24535567; 23759320; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24151159; 26506956; 24729450
Adult onset dystonia, chorea or related movement disorder v0.48 DRD2 Louise Daugherty Added phenotypes Dystonia, myoclonic, 159900 for gene: DRD2
Publications for gene DRD2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1414/ to 20301587
Adult onset dystonia, chorea or related movement disorder v0.48 C9orf72 Louise Daugherty Added phenotypes complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome for gene: C9orf72
Publications for gene C9orf72 were changed from http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 to 25326098
Adult onset dystonia, chorea or related movement disorder v0.47 HTT Louise Daugherty Source NHS GMS was added to HTT.
Adult onset dystonia, chorea or related movement disorder v0.46 HTT Louise Daugherty Source South West GLH was added to HTT.
Adult onset dystonia, chorea or related movement disorder v0.29 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.29 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.28 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_CAG were set to 24256063
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease
Adult onset dystonia, chorea or related movement disorder v0.2 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17503336; 11523564
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)
Adult onset dystonia, chorea or related movement disorder v0.2 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 TH Ellen McDonagh gene: TH was added
gene: TH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; infantile parkinsonism; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407
Adult onset dystonia, chorea or related movement disorder v0.2 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Adult onset dystonia, chorea or related movement disorder v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Adult onset dystonia, chorea or related movement disorder v0.2 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078; 11528394
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset dystonia, chorea or related movement disorder v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Adult onset dystonia, chorea or related movement disorder v0.2 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Phenotypes for gene: PRKRA were set to Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067
Adult onset dystonia, chorea or related movement disorder v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800
Adult onset dystonia, chorea or related movement disorder v0.2 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567
Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Adult onset dystonia, chorea or related movement disorder v0.2 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159; movement disorder
Adult onset dystonia, chorea or related movement disorder v0.2 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset dystonia, chorea or related movement disorder v0.2 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome
Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22850527
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12