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Dystonia - childhood onset v1.8 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source Other was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia - childhood onset v1.5 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30054180, 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Dystonia, including childhood & adult onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v1.5 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 28247337; 17262856; 19185523; 21596602
Dystonia - childhood onset v1.4 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 28247337; 17262856
Dystonia - childhood onset v1.3 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Dystonia - childhood onset v1.3 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia - childhood onset v1.2 Ellen McDonagh Panel status changed from internal to public
Dystonia - childhood onset v1.1 Ellen McDonagh Panel status changed from public to internal
Dystonia - childhood onset v1.0 Louise Daugherty promoted panel to version 1.0
Dystonia - childhood onset v0.42 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Dystonia - childhood onset v0.41 SDHA Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
Dystonia - childhood onset v0.40 SUCLG1 Louise Daugherty Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Dystonia - childhood onset v0.39 SURF1 Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Dystonia - childhood onset v0.38 BCS1L Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Dystonia - childhood onset v0.37 COX10 Louise Daugherty Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
Dystonia - childhood onset v0.36 COX15 Louise Daugherty Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Dystonia - childhood onset v0.35 NDUFAF2 Louise Daugherty Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
Dystonia - childhood onset v0.34 NDUFS7 Louise Daugherty Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Dystonia - childhood onset v0.33 NDUFS8 Louise Daugherty Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222
Dystonia - childhood onset v0.32 NDUFV1 Louise Daugherty Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
Dystonia - childhood onset v0.31 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Dystonia - childhood onset v0.30 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Dystonia - childhood onset v0.29 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Dystonia - childhood onset v0.28 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Dystonia - childhood onset v0.27 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Dystonia - childhood onset v0.27 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.26 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Dystonia - childhood onset v0.25 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Dystonia - childhood onset v0.25 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.24 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76
Sources: Expert list
Dystonia - childhood onset v0.23 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Dystonia - childhood onset v0.23 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.22 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Dystonia - childhood onset v0.21 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Dystonia - childhood onset v0.21 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.20 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Dystonia - childhood onset v0.19 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Dystonia - childhood onset v0.19 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.18 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76
Sources: Expert list
Dystonia - childhood onset v0.17 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Dystonia - childhood onset v0.17 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.16 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76
Sources: Expert list
Dystonia - childhood onset v0.15 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Dystonia - childhood onset v0.15 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.14 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Dystonia - childhood onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Dystonia - childhood onset v0.13 BCAP31 Eleanor Williams Classified gene: BCAP31 as Green List (high evidence)
Dystonia - childhood onset v0.13 BCAP31 Eleanor Williams Added comment: Comment on list classification: More than 3 cases with variants in BCAP31 and a dystonia phenotype
Dystonia - childhood onset v0.13 BCAP31 Eleanor Williams Gene: bcap31 has been classified as Green List (High Evidence).
Dystonia - childhood onset v0.12 BCAP31 Eleanor Williams Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Dystonia - childhood onset v0.11 BCAP31 Eleanor Williams Publications for gene: BCAP31 were set to
Dystonia - childhood onset v0.10 BCAP31 Eleanor Williams Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia - childhood onset v0.9 BCAP31 Eleanor Williams commented on gene: BCAP31
Dystonia - childhood onset v0.8 TH Eleanor Williams Tag treatable tag was added to gene: TH.
Dystonia - childhood onset v0.8 SPR Eleanor Williams Tag treatable tag was added to gene: SPR.
Dystonia - childhood onset v0.8 SLC30A10 Eleanor Williams Tag treatable tag was added to gene: SLC30A10.
Dystonia - childhood onset v0.8 SLC2A1 Eleanor Williams Tag treatable tag was added to gene: SLC2A1.
Dystonia - childhood onset v0.8 PTS Eleanor Williams Tag treatable tag was added to gene: PTS.
Dystonia - childhood onset v0.8 PRRT2 Eleanor Williams Tag treatable tag was added to gene: PRRT2.
Dystonia - childhood onset v0.8 PCDH12 Eleanor Williams Tag founder-effect tag was added to gene: PCDH12.
Dystonia - childhood onset v0.8 NUP62 Eleanor Williams Tag watchlist tag was added to gene: NUP62.
Tag founder-effect tag was added to gene: NUP62.
Dystonia - childhood onset v0.8 MUT Eleanor Williams Tag new-gene-name tag was added to gene: MUT.
Dystonia - childhood onset v0.8 KMT2B Eleanor Williams Tag treatable tag was added to gene: KMT2B.
Dystonia - childhood onset v0.8 KCNA1 Eleanor Williams Tag treatable tag was added to gene: KCNA1.
Dystonia - childhood onset v0.8 HTT Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Dystonia - childhood onset v0.8 GNAO1 Eleanor Williams Tag mosaicism tag was added to gene: GNAO1.
Dystonia - childhood onset v0.8 GNAL Eleanor Williams Tag watchlist tag was added to gene: GNAL.
Dystonia - childhood onset v0.8 GCH1 Eleanor Williams Tag treatable tag was added to gene: GCH1.
Dystonia - childhood onset v0.8 FOLR1 Eleanor Williams Tag treatable tag was added to gene: FOLR1.
Dystonia - childhood onset v0.8 DNAJC12 Eleanor Williams Tag treatable tag was added to gene: DNAJC12.
Dystonia - childhood onset v0.8 DHFR Eleanor Williams Tag treatable tag was added to gene: DHFR.
Dystonia - childhood onset v0.8 DBH Eleanor Williams Tag treatable tag was added to gene: DBH.
Dystonia - childhood onset v0.8 CACNB4 Eleanor Williams Tag treatable tag was added to gene: CACNB4.
Dystonia - childhood onset v0.8 CACNA1A Eleanor Williams Tag treatable tag was added to gene: CACNA1A.
Dystonia - childhood onset v0.8 ATP7B Eleanor Williams Tag treatable tag was added to gene: ATP7B.
Dystonia - childhood onset v0.8 ATP1A3 Eleanor Williams Tag treatable tag was added to gene: ATP1A3.
Dystonia - childhood onset v0.8 ATP1A2 Eleanor Williams Tag treatable tag was added to gene: ATP1A2.
Dystonia - childhood onset v0.8 ATN1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Tag currently-ngs-unreportable tag was added to gene: ATN1.
Dystonia - childhood onset v0.8 AIFM1 Eleanor Williams Tag watchlist tag was added to gene: AIFM1.
Dystonia - childhood onset v0.7 ISCA-37468-Loss Eleanor Williams Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Dystonia - childhood onset v0.7 YY1 Eleanor Williams gene: YY1 was added
gene: YY1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557
Dystonia - childhood onset v0.7 XPR1 Eleanor Williams gene: XPR1 was added
gene: XPR1 was added to Dystonia - childhood onset. Sources: Expert Review Green
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 616413
Dystonia - childhood onset v0.7 WDR73 Eleanor Williams gene: WDR73 was added
gene: WDR73 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Dystonia - childhood onset v0.7 WDR45 Eleanor Williams gene: WDR45 was added
gene: WDR45 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23435086; 22892189; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration
Dystonia - childhood onset v0.7 VPS37A Eleanor Williams gene: VPS37A was added
gene: VPS37A was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to
Phenotypes for gene: VPS37A were set to Dystonia
Dystonia - childhood onset v0.7 VPS13A Eleanor Williams gene: VPS13A was added
gene: VPS13A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253; 11381254; 14663054
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Dystonia - childhood onset v0.7 VAC14 Eleanor Williams gene: VAC14 was added
gene: VAC14 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 19037259; 17956977; 27292112
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054
Dystonia - childhood onset v0.7 TUBB4A Eleanor Williams gene: TUBB4A was added
gene: TUBB4A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646
Phenotypes for gene: TUBB4A were set to ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438
Dystonia - childhood onset v0.7 TUBA1A Eleanor Williams gene: TUBA1A was added
gene: TUBA1A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBA1A were set to Lissencephaly 3 611603
Dystonia - childhood onset v0.7 TREX1 Eleanor Williams gene: TREX1 was added
gene: TREX1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to
Phenotypes for gene: TREX1 were set to Dystonia
Dystonia - childhood onset v0.7 TREM2 Eleanor Williams gene: TREM2 was added
gene: TREM2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Dystonia
Dystonia - childhood onset v0.7 TPK1 Eleanor Williams gene: TPK1 was added
gene: TPK1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Phenotypes for gene: TPK1 were set to Dystonia
Dystonia - childhood onset v0.7 TOR1A Eleanor Williams gene: TOR1A was added
gene: TOR1A was added to Dystonia - childhood onset. 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; 20301334; 17503336; 11523564
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)
Dystonia - childhood onset v0.7 TIMM8A Eleanor Williams gene: TIMM8A was added
gene: TIMM8A was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Dystonia - childhood onset v0.7 THAP1 Eleanor Williams gene: THAP1 was added
gene: THAP1 was added to Dystonia - childhood onset. 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 20301334
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Dystonia - childhood onset v0.7 TH Eleanor Williams gene: TH was added
gene: TH was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 21937992; 17696123; 27830117; 7814018; 8528210; 9732974; 20301334; 9703425; 10585338; 8817341; 11246459
Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407
Dystonia - childhood onset v0.7 TAF1 Eleanor Williams gene: TAF1 was added
gene: TAF1 was added to Dystonia - childhood onset. 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; 23184149; 26879577; 26637982; 2368812; 20301334; 17273961; 26769797
Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Dystonia - childhood onset v0.7 SYNJ1 Eleanor Williams gene: SYNJ1 was added
gene: SYNJ1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 23804577; 27496670; 23804563
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset
Dystonia - childhood onset v0.7 SURF1 Eleanor Williams gene: SURF1 was added
gene: SURF1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 SUOX Eleanor Williams gene: SUOX was added
gene: SUOX was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Dystonia
Dystonia - childhood onset v0.7 SUCLG1 Eleanor Williams gene: SUCLG1 was added
gene: SUCLG1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 SUCLA2 Eleanor Williams gene: SUCLA2 was added
gene: SUCLA2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Dystonia
Dystonia - childhood onset v0.7 SPR Eleanor Williams gene: SPR was added
gene: SPR was added to Dystonia - childhood onset. 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 18502672; 27830117; 27604308; 22522443; 11443547; 20301334; 15241655
Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Dystonia - childhood onset v0.7 SLC6A5 Eleanor Williams gene: SLC6A5 was added
gene: SLC6A5 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Dystonia - childhood onset v0.7 SLC6A3 Eleanor Williams gene: SLC6A3 was added
gene: SLC6A3 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to 21112253; 24613933; 27830117
Phenotypes for gene: SLC6A3 were set to {Nicotine dependence, protection against}, 188890; Parkinsonism-dystonia, infantile, 613135; Dopamine transporter deficiency
Dystonia - childhood onset v0.7 SLC46A1 Eleanor Williams gene: SLC46A1 was added
gene: SLC46A1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to Unknown
Phenotypes for gene: SLC46A1 were set to Dystonia
Dystonia - childhood onset v0.7 SLC39A14 Eleanor Williams gene: SLC39A14 was added
gene: SLC39A14 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
Dystonia - childhood onset v0.7 SLC30A10 Eleanor Williams gene: SLC30A10 was added
gene: SLC30A10 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341971; 22341972; 22934317; 22926781; 25778823
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Dystonia - childhood onset v0.7 SLC2A1 Eleanor Williams gene: SLC2A1 was added
gene: SLC2A1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 20301334; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Dystonia - childhood onset v0.7 SLC25A19 Eleanor Williams gene: SLC25A19 was added
gene: SLC25A19 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 12185364; 17035501; 19798730
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710; Microcephaly, Amish type 607196
Dystonia - childhood onset v0.7 SLC20A2 Eleanor Williams gene: SLC20A2 was added
gene: SLC20A2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Dystonia; Basal ganglia calcification, idiopathic, 1 213600
Dystonia - childhood onset v0.7 SLC1A3 Eleanor Williams gene: SLC1A3 was added
gene: SLC1A3 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Dystonia - childhood onset v0.7 SLC19A3 Eleanor Williams gene: SLC19A3 was added
gene: SLC19A3 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483; Dystonia
Dystonia - childhood onset v0.7 SLC18A2 Eleanor Williams gene: SLC18A2 was added
gene: SLC18A2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 26497564; 27830117; 27604308; 23363473; 28477711; 27520881; 24398404; 24018103
Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency
Dystonia - childhood onset v0.7 SGCE Eleanor Williams gene: SGCE was added
gene: SGCE was added to Dystonia - childhood onset. 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 20301334; 12325078; 11528394
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Dystonia - childhood onset v0.7 SERAC1 Eleanor Williams gene: SERAC1 was added
gene: SERAC1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; Dystonia; MEGDHEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Lesions in the basal ganglia
Dystonia - childhood onset v0.7 SDHAF1 Eleanor Williams gene: SDHAF1 was added
gene: SDHAF1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to Unknown
Phenotypes for gene: SDHAF1 were set to Dystonia
Dystonia - childhood onset v0.7 SDHA Eleanor Williams gene: SDHA was added
gene: SDHA was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 SCP2 Eleanor Williams gene: SCP2 was added
gene: SCP2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to Unknown
Publications for gene: SCP2 were set to 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Dystonia - childhood onset v0.7 SCN9A Eleanor Williams gene: SCN9A was added
gene: SCN9A was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary
Dystonia - childhood onset v0.7 SCN8A Eleanor Williams gene: SCN8A was added
gene: SCN8A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Dystonia - childhood onset v0.7 SCN1A Eleanor Williams gene: SCN1A was added
gene: SCN1A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Dystonia - childhood onset v0.7 SAMHD1 Eleanor Williams gene: SAMHD1 was added
gene: SAMHD1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to Unknown
Phenotypes for gene: SAMHD1 were set to Dystonia
Dystonia - childhood onset v0.7 RNASEH2C Eleanor Williams gene: RNASEH2C was added
gene: RNASEH2C was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to Unknown
Phenotypes for gene: RNASEH2C were set to Dystonia
Dystonia - childhood onset v0.7 RNASEH2B Eleanor Williams gene: RNASEH2B was added
gene: RNASEH2B was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to Unknown
Phenotypes for gene: RNASEH2B were set to Dystonia
Dystonia - childhood onset v0.7 RNASEH2A Eleanor Williams gene: RNASEH2A was added
gene: RNASEH2A was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to Unknown
Phenotypes for gene: RNASEH2A were set to Dystonia
Dystonia - childhood onset v0.7 RAB39B Eleanor Williams gene: RAB39B was added
gene: RAB39B was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RAB39B were set to 27838047; 27448726; 27943471; 25434005; 26399558
Phenotypes for gene: RAB39B were set to Waisman syndrome 311510
Dystonia - childhood onset v0.7 QDPR Eleanor Williams gene: QDPR was added
gene: QDPR was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 7627180; 317358; 10029353; 27830117; 11153907; 27604308; 11746132; 2785251; 16917893; 49470; 53532; 2116088
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia; Dihydropteridine reductase deficiency
Dystonia - childhood onset v0.7 PTS Eleanor Williams gene: PTS was added
gene: PTS was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTS were set to 9450907; 10220141; 27604308; 27830117; 8178819
Phenotypes for gene: PTS were set to 6-Pyruvoyltetrahydropterin Synthase Deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency
Dystonia - childhood onset v0.7 PTEN Eleanor Williams gene: PTEN was added
gene: PTEN was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to Unknown
Phenotypes for gene: PTEN were set to Dystonia
Dystonia - childhood onset v0.7 PSEN1 Eleanor Williams gene: PSEN1 was added
gene: PSEN1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PSEN1 was set to Unknown
Phenotypes for gene: PSEN1 were set to Dystonia
Dystonia - childhood onset v0.7 PRRT2 Eleanor Williams gene: PRRT2 was added
gene: PRRT2 was added to Dystonia - childhood onset. 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; 22101681; 20301334; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; dystonia and occasionally hemiplegic migraine and epilepsy; Episodic kinesigenic dyskinesia 1, 128200
Dystonia - childhood onset v0.7 PRNP Eleanor Williams gene: PRNP was added
gene: PRNP was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400
Dystonia - childhood onset v0.7 PRKRA Eleanor Williams gene: PRKRA was added
gene: PRKRA was added to Dystonia - childhood onset. 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; 25737287; 18420150; 20301334; 25142429; 18243799; 25914261
Phenotypes for gene: PRKRA were set to Dystonia 16, 612067; Dystonia; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Dystonia - childhood onset v0.7 PRKN Eleanor Williams gene: PRKN was added
gene: PRKN was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2
Dystonia - childhood onset v0.7 PNPT1 Eleanor Williams gene: PNPT1 was added
gene: PNPT1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to Unknown
Phenotypes for gene: PNPT1 were set to Dystonia
Dystonia - childhood onset v0.7 PNKD Eleanor Williams gene: PNKD was added
gene: PNKD was added to Dystonia - childhood onset. 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 20301334; 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800
Dystonia - childhood onset v0.7 PLP1 Eleanor Williams gene: PLP1 was added
gene: PLP1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PLP1 was set to Unknown
Phenotypes for gene: PLP1 were set to Dystonia
Dystonia - childhood onset v0.7 PLA2G6 Eleanor Williams gene: PLA2G6 was added
gene: PLA2G6 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Dystonia - childhood onset v0.7 PITX3 Eleanor Williams gene: PITX3 was added
gene: PITX3 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX3 were set to 22223473; 21368136; 26392380; 25011953
Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation
Dystonia - childhood onset v0.7 PINK1 Eleanor Williams gene: PINK1 was added
gene: PINK1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia
Dystonia - childhood onset v0.7 PDX1 Eleanor Williams gene: PDX1 was added
gene: PDX1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to MODY, type IV 606392; Pancreatic agenesis 1 260370
Dystonia - childhood onset v0.7 PDP1 Eleanor Williams gene: PDP1 was added
gene: PDP1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP1 were set to 19184109; 15855260
Dystonia - childhood onset v0.7 PDHX Eleanor Williams gene: PDHX was added
gene: PDHX was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to Unknown
Phenotypes for gene: PDHX were set to Dystonia
Dystonia - childhood onset v0.7 PDHA1 Eleanor Williams gene: PDHA1 was added
gene: PDHA1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency 312170
Dystonia - childhood onset v0.7 PDGFRB Eleanor Williams gene: PDGFRB was added
gene: PDGFRB was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 27984190; 23255827; 26129893; 25292412
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4 615007; Dystonia
Dystonia - childhood onset v0.7 PDGFB Eleanor Williams gene: PDGFB was added
gene: PDGFB was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFB were set to 26129893
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Dystonia - childhood onset v0.7 PDE10A Eleanor Williams gene: PDE10A was added
gene: PDE10A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to 27058447; 27058446
Phenotypes for gene: PDE10A were set to Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921
Dystonia - childhood onset v0.7 PCDH12 Eleanor Williams gene: PCDH12 was added
gene: PCDH12 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Dystonia - childhood onset v0.7 PCCB Eleanor Williams gene: PCCB was added
gene: PCCB was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia 606054
Dystonia - childhood onset v0.7 PCCA Eleanor Williams gene: PCCA was added
gene: PCCA was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 6790853; 15235904
Phenotypes for gene: PCCA were set to Propionicacidemia 606054
Dystonia - childhood onset v0.7 PARK7 Eleanor Williams gene: PARK7 was added
gene: PARK7 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset
Dystonia - childhood onset v0.7 PANK2 Eleanor Williams gene: PANK2 was added
gene: PANK2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia
Dystonia - childhood onset v0.7 OCLN Eleanor Williams gene: OCLN was added
gene: OCLN was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 20727516
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Dystonia - childhood onset v0.7 NUP62 Eleanor Williams gene: NUP62 was added
gene: NUP62 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527; 14718703; 12374138
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile 271930
Dystonia - childhood onset v0.7 NPC2 Eleanor Williams gene: NPC2 was added
gene: NPC2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NPC2 was set to Unknown
Phenotypes for gene: NPC2 were set to Dystonia
Dystonia - childhood onset v0.7 NKX6-2 Eleanor Williams gene: NKX6-2 was added
gene: NKX6-2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Dystonia - childhood onset v0.7 NKX2-1 Eleanor Williams gene: NKX2-1 was added
gene: NKX2-1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Dystonia - childhood onset v0.7 NDUFV1 Eleanor Williams gene: NDUFV1 was added
gene: NDUFV1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 10080174; 26345448
Dystonia - childhood onset v0.7 NDUFS8 Eleanor Williams gene: NDUFS8 was added
gene: NDUFS8 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 NDUFS7 Eleanor Williams gene: NDUFS7 was added
gene: NDUFS7 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 NDUFS4 Eleanor Williams gene: NDUFS4 was added
gene: NDUFS4 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 24020637
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome 256000
Dystonia - childhood onset v0.7 NDUFS3 Eleanor Williams gene: NDUFS3 was added
gene: NDUFS3 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000
Dystonia - childhood onset v0.7 NDUFAF6 Eleanor Williams gene: NDUFAF6 was added
gene: NDUFAF6 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 18614015; 27623250; 26741492
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000
Dystonia - childhood onset v0.7 NDUFAF2 Eleanor Williams gene: NDUFAF2 was added
gene: NDUFAF2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF2 were set to 16200211; 20571988; 20818383
Dystonia - childhood onset v0.7 NDUFA9 Eleanor Williams gene: NDUFA9 was added
gene: NDUFA9 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105
Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000
Dystonia - childhood onset v0.7 NDUFA2 Eleanor Williams gene: NDUFA2 was added
gene: NDUFA2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 18513682
Dystonia - childhood onset v0.7 NDUFA12 Eleanor Williams gene: NDUFA12 was added
gene: NDUFA12 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Dystonia - childhood onset v0.7 NDUFA10 Eleanor Williams gene: NDUFA10 was added
gene: NDUFA10 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492
Phenotypes for gene: NDUFA10 were set to Leigh syndrome 256000
Dystonia - childhood onset v0.7 NDUFA1 Eleanor Williams gene: NDUFA1 was added
gene: NDUFA1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NDUFA1 were set to 28247337; 17262856
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency 252010
Dystonia - childhood onset v0.7 MUT Eleanor Williams gene: MUT was added
gene: MUT was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000
Dystonia - childhood onset v0.7 MT-ND6 Eleanor Williams gene: MT-ND6 was added
gene: MT-ND6 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Dystonia - childhood onset v0.7 MT-ND1 Eleanor Williams gene: MT-ND1 was added
gene: MT-ND1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Dystonia - childhood onset v0.7 MT-ATP6 Eleanor Williams gene: MT-ATP6 was added
gene: MT-ATP6 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 1550128; 11916326
Dystonia - childhood onset v0.7 MR1 Eleanor Williams gene: MR1 was added
gene: MR1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Paroxysmal/Episodic dystonia; Dystonia
Dystonia - childhood onset v0.7 MPV17 Eleanor Williams gene: MPV17 was added
gene: MPV17 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to Unknown
Phenotypes for gene: MPV17 were set to Dystonia
Dystonia - childhood onset v0.7 MMADHC Eleanor Williams gene: MMADHC was added
gene: MMADHC was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to Unknown
Phenotypes for gene: MMADHC were set to Dystonia
Dystonia - childhood onset v0.7 MECR Eleanor Williams gene: MECR was added
gene: MECR was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to 27817865
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Dystonia - childhood onset v0.7 MCOLN1 Eleanor Williams gene: MCOLN1 was added
gene: MCOLN1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to Unknown
Phenotypes for gene: MCOLN1 were set to Dystonia
Dystonia - childhood onset v0.7 MAT1A Eleanor Williams gene: MAT1A was added
gene: MAT1A was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to Unknown
Phenotypes for gene: MAT1A were set to Dystonia
Dystonia - childhood onset v0.7 MAOA Eleanor Williams gene: MAOA was added
gene: MAOA was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: MAOA 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: MAOA were set to 8211186; 27830117; 24169519
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615; Monoamine oxidase A deficiency
Dystonia - childhood onset v0.7 L2HGDH Eleanor Williams gene: L2HGDH was added
gene: L2HGDH was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to Unknown
Phenotypes for gene: L2HGDH were set to Dystonia
Dystonia - childhood onset v0.7 KMT2B Eleanor Williams gene: KMT2B was added
gene: KMT2B was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset 617284; early-onset dystonia
Dystonia - childhood onset v0.7 KCNQ3 Eleanor Williams gene: KCNQ3 was added
gene: KCNQ3 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Dystonia - childhood onset v0.7 KCNQ2 Eleanor Williams gene: KCNQ2 was added
gene: KCNQ2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200; Dystonia
Dystonia - childhood onset v0.7 KCNK18 Eleanor Williams gene: KCNK18 was added
gene: KCNK18 was added to Dystonia - childhood onset. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to Unknown
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Dystonia - childhood onset v0.7 KCNA1 Eleanor Williams gene: KCNA1 was added
gene: KCNA1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
Dystonia - childhood onset v0.7 IVD Eleanor Williams gene: IVD was added
gene: IVD was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia 243500
Dystonia - childhood onset v0.7 ISG15 Eleanor Williams gene: ISG15 was added
gene: ISG15 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISG15 were set to 25307056; 22859821
Phenotypes for gene: ISG15 were set to Immunodeficiency 38 616126
Dystonia - childhood onset v0.7 IFIH1 Eleanor Williams gene: IFIH1 was added
gene: IFIH1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 615846
Dystonia - childhood onset v0.7 HTT Eleanor Williams gene: HTT was added
gene: HTT was added to Dystonia - childhood onset. 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 143100
Dystonia - childhood onset v0.7 HTRA2 Eleanor Williams gene: HTRA2 was added
gene: HTRA2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248
Dystonia - childhood onset v0.7 HPRT1 Eleanor Williams gene: HPRT1 was added
gene: HPRT1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to Unknown
Phenotypes for gene: HPRT1 were set to Dystonia
Dystonia - childhood onset v0.7 HPCA Eleanor Williams gene: HPCA was added
gene: HPCA was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia
Dystonia - childhood onset v0.7 HIBCH Eleanor Williams gene: HIBCH was added
gene: HIBCH was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Dystonia - childhood onset v0.7 HEXA Eleanor Williams gene: HEXA was added
gene: HEXA was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Dystonia - childhood onset v0.7 GNAO1 Eleanor Williams gene: GNAO1 was added
gene: GNAO1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 27068059; 27625011; 26060304; 25966631; 28357411
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Dystonia - childhood onset v0.7 GNAL Eleanor Williams gene: GNAL was added
gene: GNAL was added to Dystonia - childhood onset. 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; 27123488; 24151159; 23449625; 25847575; 20301334; 26810727; 24408567; 23759320; 26365774; 26506956; 25382112; 24535567
Phenotypes for gene: GNAL were set to Dystonia 25, 615073
Dystonia - childhood onset v0.7 GLRB Eleanor Williams gene: GLRB was added
gene: GLRB was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Dystonia - childhood onset v0.7 GLRA1 Eleanor Williams gene: GLRA1 was added
gene: GLRA1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Dystonia - childhood onset v0.7 GFAP Eleanor Williams gene: GFAP was added
gene: GFAP was added to Dystonia - childhood onset. Sources: Expert Review Amber
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 15732098; 14557587
Phenotypes for gene: GFAP were set to Alexander disease 203450
Dystonia - childhood onset v0.7 GCH1 Eleanor Williams gene: GCH1 was added
gene: GCH1 was added to Dystonia - childhood onset. 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 20301681; 15753436; 12552057; 10732814; 2296384; 11346370; 3041760; 9667588; 8163996; 7874165; 7730309; 3762960; 6734669; 20301334; 11113234; 3400489; 3822637; 10208576; 16908750; 1899474; 10987649; 945938; 7869202; 12084887; 27830117; 942621; 17111153
Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Dystonia - childhood onset v0.7 GCDH Eleanor Williams gene: GCDH was added
gene: GCDH was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 8900228; 8900227; 10699052; 11174631; 7795610
Phenotypes for gene: GCDH were set to Dystonia
Dystonia - childhood onset v0.7 GAMT Eleanor Williams gene: GAMT was added
gene: GAMT was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to Unknown
Phenotypes for gene: GAMT were set to Dystonia
Dystonia - childhood onset v0.7 FTL Eleanor Williams gene: FTL was added
gene: FTL was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159
Dystonia - childhood onset v0.7 FOXRED1 Eleanor Williams gene: FOXRED1 was added
gene: FOXRED1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to Unknown
Phenotypes for gene: FOXRED1 were set to Dystonia
Dystonia - childhood onset v0.7 FOXP2 Eleanor Williams gene: FOXP2 was added
gene: FOXP2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 22434823; 11586359; 15877281
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1 602081
Dystonia - childhood onset v0.7 FOXG1 Eleanor Williams gene: FOXG1 was added
gene: FOXG1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to Unknown
Phenotypes for gene: FOXG1 were set to Dystonia
Dystonia - childhood onset v0.7 FOLR1 Eleanor Williams gene: FOLR1 was added
gene: FOLR1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 21937992; 2044715; 27830117
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Folate receptor alpha deficiency
Dystonia - childhood onset v0.7 FBXO7 Eleanor Williams gene: FBXO7 was added
gene: FBXO7 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Dystonia; juvenile parkinsonism
Dystonia - childhood onset v0.7 FASTKD2 Eleanor Williams gene: FASTKD2 was added
gene: FASTKD2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to Unknown
Phenotypes for gene: FASTKD2 were set to Dystonia
Dystonia - childhood onset v0.7 FA2H Eleanor Williams gene: FA2H was added
gene: FA2H was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 19068277
Phenotypes for gene: FA2H were set to fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive 612319; Dystonia
Dystonia - childhood onset v0.7 ETHE1 Eleanor Williams gene: ETHE1 was added
gene: ETHE1 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy 602473
Dystonia - childhood onset v0.7 ERCC6 Eleanor Williams gene: ERCC6 was added
gene: ERCC6 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to Unknown
Phenotypes for gene: ERCC6 were set to Dystonia
Dystonia - childhood onset v0.7 EARS2 Eleanor Williams gene: EARS2 was added
gene: EARS2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to Unknown
Phenotypes for gene: EARS2 were set to Dystonia
Dystonia - childhood onset v0.7 DRD5 Eleanor Williams gene: DRD5 was added
gene: DRD5 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to Unknown
Publications for gene: DRD5 were set to 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Dystonia - childhood onset v0.7 DRD2 Eleanor Williams gene: DRD2 was added
gene: DRD2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to Unknown
Publications for gene: DRD2 were set to 20301587
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Dystonia - childhood onset v0.7 DNAJC12 Eleanor Williams gene: DNAJC12 was added
gene: DNAJC12 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Dystonia - childhood onset v0.7 DLAT Eleanor Williams gene: DLAT was added
gene: DLAT was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940; 19891062
Phenotypes for gene: DLAT were set to Dystonia; Pyruvate dehydrogenase E2 deficiency 245348
Dystonia - childhood onset v0.7 DHFR Eleanor Williams gene: DHFR was added
gene: DHFR was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 27604308; 21310277; 21310276; 27830117
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency
Dystonia - childhood onset v0.7 DDC Eleanor Williams gene: DDC was added
gene: DDC was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 27604308; 24816252; 27830117
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia
Dystonia - childhood onset v0.7 DCTN1 Eleanor Williams gene: DCTN1 was added
gene: DCTN1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB
Dystonia - childhood onset v0.7 DCAF17 Eleanor Williams gene: DCAF17 was added
gene: DCAF17 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Dystonia - childhood onset v0.7 DCAF10 Eleanor Williams gene: DCAF10 was added
gene: DCAF10 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 DBH Eleanor Williams gene: DBH was added
gene: DBH was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBH were set to 27604308; 27778639; 27830117
Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency, 223360
Dystonia - childhood onset v0.7 CYP27A1 Eleanor Williams gene: CYP27A1 was added
gene: CYP27A1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to Unknown
Phenotypes for gene: CYP27A1 were set to Dystonia
Dystonia - childhood onset v0.7 CSTB Eleanor Williams gene: CSTB was added
gene: CSTB was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800
Dystonia - childhood onset v0.7 CP Eleanor Williams gene: CP was added
gene: CP was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290
Dystonia - childhood onset v0.7 COX15 Eleanor Williams gene: COX15 was added
gene: COX15 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 COX10 Eleanor Williams gene: COX10 was added
gene: COX10 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10767350
Dystonia - childhood onset v0.7 COASY Eleanor Williams gene: COASY was added
gene: COASY was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804; 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643
Dystonia - childhood onset v0.7 CIZ1 Eleanor Williams gene: CIZ1 was added
gene: CIZ1 was added to Dystonia - childhood onset. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to Unknown
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Dystonia - childhood onset v0.7 CHMP2B Eleanor Williams gene: CHMP2B was added
gene: CHMP2B was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Dystonia - childhood onset v0.7 CACNB4 Eleanor Williams gene: CACNB4 was added
gene: CACNB4 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Dystonia - childhood onset v0.7 CACNA1A Eleanor Williams gene: CACNA1A was added
gene: CACNA1A was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to episodic ataxia type 2 (EA2), 108500; Dystonia; familial hemiplegic migraine type 1, 141500
Dystonia - childhood onset v0.7 C19orf12 Eleanor Williams gene: C19orf12 was added
gene: C19orf12 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia
Dystonia - childhood onset v0.7 BDNF Eleanor Williams gene: BDNF was added
gene: BDNF was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BDNF were set to 23649659; 27780732
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880
Dystonia - childhood onset v0.7 BCS1L Eleanor Williams gene: BCS1L was added
gene: BCS1L was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia - childhood onset v0.7 BCAP31 Eleanor Williams gene: BCAP31 was added
gene: BCAP31 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: BCAP31 was set to Unknown
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
Dystonia - childhood onset v0.7 AUH Eleanor Williams gene: AUH was added
gene: AUH was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to Unknown
Phenotypes for gene: AUH were set to Dystonia
Dystonia - childhood onset v0.7 ATP7B Eleanor Williams gene: ATP7B was added
gene: ATP7B was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Dystonia - childhood onset v0.7 ATP1A3 Eleanor Williams gene: ATP1A3 was added
gene: ATP1A3 was added to Dystonia - childhood onset. 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; 20301334; 22850527
Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Rapid-Onset Dystonia-Parkinsonism
Dystonia - childhood onset v0.7 ATP1A2 Eleanor Williams gene: ATP1A2 was added
gene: ATP1A2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; migraine; alternating hemiplegia of childhood 104290; Dystonia
Dystonia - childhood onset v0.7 ATP13A2 Eleanor Williams gene: ATP13A2 was added
gene: ATP13A2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21060012
Phenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia
Dystonia - childhood onset v0.7 ATN1 Eleanor Williams gene: ATN1 was added
gene: ATN1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Dystonia - childhood onset v0.7 ATM Eleanor Williams gene: ATM was added
gene: ATM was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Dystonia; Ataxia telangiectasia
Dystonia - childhood onset v0.7 ARX Eleanor Williams gene: ARX was added
gene: ARX was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to Unknown
Phenotypes for gene: ARX were set to Dystonia
Dystonia - childhood onset v0.7 ARSA Eleanor Williams gene: ARSA was added
gene: ARSA was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: ARSA was set to Unknown
Phenotypes for gene: ARSA were set to Dystonia
Dystonia - childhood onset v0.7 APTX Eleanor Williams gene: APTX was added
gene: APTX was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Dystonia - childhood onset v0.7 AP1S2 Eleanor Williams gene: AP1S2 was added
gene: AP1S2 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340; Dystonia
Dystonia - childhood onset v0.7 ANO3 Eleanor Williams gene: ANO3 was added
gene: ANO3 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to familial form of cranio-cervical dystonia; Dystonia 24, 615034
Dystonia - childhood onset v0.7 AIFM1 Eleanor Williams gene: AIFM1 was added
gene: AIFM1 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 20362274
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816
Dystonia - childhood onset v0.7 AFG3L2 Eleanor Williams gene: AFG3L2 was added
gene: AFG3L2 was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: AFG3L2 was set to Unknown
Phenotypes for gene: AFG3L2 were set to Dystonia
Dystonia - childhood onset v0.7 ADCY5 Eleanor Williams gene: ADCY5 was added
gene: ADCY5 was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Dystonia - childhood onset v0.7 ADAR Eleanor Williams gene: ADAR was added
gene: ADAR was added to Dystonia - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 28139822
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Dystonia - childhood onset v0.7 ACTB Eleanor Williams gene: ACTB was added
gene: ACTB was added to Dystonia - childhood onset. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to Unknown
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Dystonia - childhood onset v0.6 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
Dystonia - childhood onset v0.5 Louise Daugherty Panel types changed to GMS Rare Disease
Dystonia - childhood onset v0.4 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
Dystonia - childhood onset v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease
Dystonia - childhood onset v0.0 Ellen McDonagh Added Panel Dystonia - childhood onset
Set panel types to: GMS Rare Disease Virtual