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Dystonia - isolated/combined v1.37 NIT1 Ain Roesley Marked gene: NIT1 as ready
Dystonia - isolated/combined v1.37 NIT1 Ain Roesley Gene: nit1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.37 NIT1 Ain Roesley Classified gene: NIT1 as Green List (high evidence)
Dystonia - isolated/combined v1.37 NIT1 Ain Roesley Gene: nit1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.36 NIT1 Paul De Fazio gene: NIT1 was added
gene: NIT1 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIT1 were set to 38430071
Phenotypes for gene: NIT1 were set to Cerebrovascular disorder, NIT1-related (MONDO:0011057)
Penetrance for gene: NIT1 were set to unknown
Review for gene: NIT1 was set to GREEN
gene: NIT1 was marked as current diagnostic
Added comment: 5 unrelated families reported with recessively inherited cerebral small vessel disease had compound hetereozygous or homozygous variants in NIT1. 1 family (3 siblings) had p.(Ala68*) in trans with p.(Arg243Trp), the remaining 4 families (1 individual each) were all homozygous for p.(Arg243Trp).

Patients presented in mid-adulthood with progressive movement disorders (e.g. dystonia, chorea, bradykinesia and tremor, gait disturbance, dysarthria) and had abnormal brain MRI findings. 3 patients had non-lobar intracerebral hemorrhage. Metabolic analysis in urine confirmed loss of NIT1 enzymatic function.

Note p.(Arg243Trp) has 1 homozygote in gnomAD v4, but permitted due to later presentation in reported patients.
Sources: Literature
Dystonia - isolated/combined v1.36 ARFGEF3 Zornitza Stark Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related
Dystonia - isolated/combined v1.35 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Dystonia - isolated/combined v1.35 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.35 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Dystonia - isolated/combined v1.35 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.34 GABRB3 Michelle Torres reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37647766; Phenotypes: Developmental and epileptic encephalopathy 43 MIM#617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v1.34 GABRB3 Michelle Torres Deleted their review
Dystonia - isolated/combined v1.34 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders.
Sources: Literature
Dystonia - isolated/combined v1.34 SHQ1 Zornitza Stark Publications for gene: SHQ1 were set to 34542157
Dystonia - isolated/combined v1.33 SHQ1 Zornitza Stark Classified gene: SHQ1 as Green List (high evidence)
Dystonia - isolated/combined v1.33 SHQ1 Zornitza Stark Gene: shq1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.32 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Added comment: Additional individual with isolated dystonia, early-onset, reported. Compound het variants including one LoF and one missense.; Changed rating: GREEN; Changed publications: 34542157, 37475611
Dystonia - isolated/combined v1.32 ATP5B Zornitza Stark Marked gene: ATP5B as ready
Dystonia - isolated/combined v1.32 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.32 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from DYSTONIA; PROGRESSIVE DYSTONIA to Inherited dystonia, MONDO:0044807, ATP5B-related
Dystonia - isolated/combined v1.31 ATP5B Zornitza Stark Classified gene: ATP5B as Amber List (moderate evidence)
Dystonia - isolated/combined v1.31 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.30 ATP5B Zornitza Stark reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v1.30 ATP5B Shekeeb Mohammad gene: ATP5B was added
gene: ATP5B was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP5B were set to 36860166
Phenotypes for gene: ATP5B were set to DYSTONIA; PROGRESSIVE DYSTONIA
Penetrance for gene: ATP5B were set to Incomplete
Review for gene: ATP5B was set to GREEN
Added comment: Sources: Literature
Dystonia - isolated/combined v1.30 CACNA1B Bryony Thompson Marked gene: CACNA1B as ready
Dystonia - isolated/combined v1.30 CACNA1B Bryony Thompson Gene: cacna1b has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v1.30 CACNA1B Bryony Thompson gene: CACNA1B was added
gene: CACNA1B was added to Dystonia - isolated/combined. Sources: Other
Mode of inheritance for gene: CACNA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1B were set to 25296916; 26157024; 35698023; 33051750; 35041927
Phenotypes for gene: CACNA1B were set to Myoclonus-dystonia syndrome MONDO:0000903
Review for gene: CACNA1B was set to RED
Added comment: The original report of the association of the gene with dystonia was a variant with a higher allele frequency than expected for a variant. There have been no compelling reports since.
PMID: 25296916 - c.4166G>A:p.R1389H was identified segregating in a family with myoclonus dystonia (M-D) and in vitro assays of the variant demonstrated an effect on protein function. However, the variant is present in 122 hets in gnomAD v2.1 (AF 0.04%) which is higher than expected for a dominant disease.
PMID: 26157024 - study with a case-control analysis that does not support a causal association for c.4166G>A:p.R1389H with M-D
PMID: 35698023 - c.2681A > T; p.K894M was identified in 2 siblings with generalised dystonia. Both parents were unaffected and did not undergo testing for the variant. However, this variant is present in 25 hets in gnomAD v3.1 (AF 0.02%) which is higher than expected for a dominant disease.
PMID: 33051750 - reports 2 CACNA1B variants in an isolated focal dystonia cohort, but the quality of the study is questionable. They report a supposed 2 bp deletion, but the screenshot of the reads is an apparent 1 bp deletion and the frequency in the cohort is questionable. They also report a missense c.6834T>G pLeu2215Arg, which is actually a common benign synonymous variant NM_000718.4(CACNA1B):c.6831T>G (p.Thr2277=)
PMID: 35041927 - Taiwanese dystonia cohort - c.6506A>T(p.N2169I - 1 het in gnomAD v3.1) was identified in case with childhood-onset of segmental dystonia involving the face, neck, and shoulder, associated with myoclonus. FH present, but segregation not possible. c.6694C>G (p.L2232V - absent in gnomAD) and c.6928G>A (p.V2310M - 3 hets in gnomAD v3.1) were identified each in a case with sporadic cervical dystonia. All VUS.
Sources: Other
Dystonia - isolated/combined v1.29 RELN Bryony Thompson Marked gene: RELN as ready
Dystonia - isolated/combined v1.29 RELN Bryony Thompson Gene: reln has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v1.29 RELN Bryony Thompson gene: RELN was added
gene: RELN was added to Dystonia - isolated/combined. Sources: Other
Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELN were set to 32334381; 25648840
Phenotypes for gene: RELN were set to Myoclonus-dystonia syndrome MONDO:0000903
Review for gene: RELN was set to RED
Added comment: Only identified a single proband with a rare de novo variant with a complex myoclonus-dystonia syndrome phenotype. Other study with segregation evidence, were missense variants that are too common in gnomAD v2.1
PMID: 32334381 - de novo c.6259T > C; W2087R. Male proband age of onset 26 yrs, with non progressive right upper limb dystonia, myoclonus, epilepsy, pyramidal syndrome, mild ID
PMID: 25648840 - 2 myoclonus-dystonia (MD) families segregating p.Thr1904Met (fam 1: 5 affected carriers & 5 unaffected non-carriers; fam 2: 5 affected carriers including obligates, 3 unaffected carriers, & 4 unaffected non-carriers). But, variant has 82 hets in gnomAD v2.1 (AF 0.03%) which is a bit high for a dominant condition. Another family segregating p.Ile1217Met with MD (3 affected carriers & 3 unaffected non carriers). However, there are 713 alleles in gnomAD v2.1 including 2 homozygotes (0.25% AF) which is too high for a dominant condition. 2 other missense reported in 2 MD probands, but both present in gnomAD v2.1 at frequencies not consistent with dominant disease.
Sources: Other
Dystonia - isolated/combined v1.28 Zornitza Stark HPO terms changed from to Dystonia, HP:0001332
List of related panels changed from to Dystonia; HP:0001332
Dystonia - isolated/combined v1.27 THAP1 Alison Yeung Mode of inheritance for gene: THAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Marked gene: THAP1 as ready
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Gene: thap1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Publications for gene: THAP1 were set to 21793105; 22377579
Dystonia - isolated/combined v1.25 THAP1 Alison Yeung Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.24 THAP1 Michelle Torres edited their review of gene: THAP1: Added comment: Monoallelic is well established with reduced penetrance.

Biallelic was seen in 3 families with severe and early onset dystonia:

PMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness).

PMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected.

PMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.; Changed publications: 36205328, 21425335, 20211909; Changed phenotypes: Dystonia 6, torsion, (MIM#60262); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.24 THAP1 Michelle Torres commented on gene: THAP1
Dystonia - isolated/combined v1.24 DRD2 Zornitza Stark Marked gene: DRD2 as ready
Dystonia - isolated/combined v1.24 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v1.24 DRD2 Zornitza Stark Phenotypes for gene: DRD2 were changed from dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems
Dystonia - isolated/combined v1.23 DRD2 Chirag Patel Classified gene: DRD2 as Red List (low evidence)
Dystonia - isolated/combined v1.23 DRD2 Chirag Patel Added comment: Comment on list classification: Single family only
Dystonia - isolated/combined v1.23 DRD2 Chirag Patel Gene: drd2 has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v1.22 DRD2 Shekeeb Mohammad edited their review of gene: DRD2: Changed rating: GREEN; Set current diagnostic: yes
Dystonia - isolated/combined v1.22 DRD2 Shekeeb Mohammad gene: DRD2 was added
gene: DRD2 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DRD2 were set to 33200438
Phenotypes for gene: DRD2 were set to dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems
Penetrance for gene: DRD2 were set to Complete
Mode of pathogenicity for gene: DRD2 was set to Other
Added comment: Gain of Function variants reported with disease in a single multigenerational family doi: 10.1002/mds.28385
Sources: Literature
Dystonia - isolated/combined v1.22 SHQ1 Zornitza Stark Phenotypes for gene: SHQ1 were changed from Dystonia to Dystonia 35, childhood-onset , MIM# 619921
Dystonia - isolated/combined v1.21 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Changed phenotypes: Dystonia 35, childhood-onset , MIM# 619921
Dystonia - isolated/combined v1.21 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Dystonia - isolated/combined v1.21 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.21 EIF2AK2 Zornitza Stark Phenotypes for gene: EIF2AK2 were changed from early onset, mostly isolated generalised dystonia; dysarthria; tremor to Dystonia 33, MIM# 619687
Dystonia - isolated/combined v1.20 EIF2AK2 Zornitza Stark Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None
Dystonia - isolated/combined v1.19 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Dystonia - isolated/combined v1.19 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.18 EIF2AK2 Zornitza Stark reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 33, MIM# 619687; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.18 EIF2AK2 Eunice Chan gene: EIF2AK2 was added
gene: EIF2AK2 was added to Dystonia - isolated/combined. Sources: Expert Review
Mode of inheritance for gene: EIF2AK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EIF2AK2 were set to PMID: 35146068; PMID: 33236446; PMID: 33866603
Phenotypes for gene: EIF2AK2 were set to early onset, mostly isolated generalised dystonia; dysarthria; tremor
Mode of pathogenicity for gene: EIF2AK2 was set to Other
Review for gene: EIF2AK2 was set to GREEN
Added comment: Mode of pathogenicity - Likely gain of function/ persistent activation of EIF2AK2-eIF2a pathway
Partial response to DBS
Sources: Expert Review
Dystonia - isolated/combined v1.18 KCNN2 Alison Yeung Marked gene: KCNN2 as ready
Dystonia - isolated/combined v1.18 KCNN2 Alison Yeung Gene: kcnn2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.18 KCNN2 Alison Yeung Publications for gene: KCNN2 were set to PMID: 32212350; 33242881
Dystonia - isolated/combined v1.17 KCNN2 Alison Yeung Classified gene: KCNN2 as Green List (high evidence)
Dystonia - isolated/combined v1.17 KCNN2 Alison Yeung Gene: kcnn2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.16 KCNN2 Chern Lim gene: KCNN2 was added
gene: KCNN2 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN2 were set to PMID: 32212350; 33242881
Phenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Review for gene: KCNN2 was set to GREEN
gene: KCNN2 was marked as current diagnostic
Added comment: PMID: 32212350: one family with multiple affected individuals, autosomal-dominant tremulous
myoclonus-dystonia.

PMID: 33242881: one of the patients had myoclonus-dystonia, one with dystonia and dyskinesia (limbs and trunk).
Sources: Literature
Dystonia - isolated/combined v1.16 VPS11 Zornitza Stark Phenotypes for gene: VPS11 were changed from Dystonia, adult-onset to Dystonia 32, MIM# 619637; Dystonia, adult-onset
Dystonia - isolated/combined v1.15 VPS11 Zornitza Stark edited their review of gene: VPS11: Changed phenotypes: Dystonia 32, MIM# 619637, Dystonia, adult-onset
Dystonia - isolated/combined v1.15 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Dystonia - isolated/combined v1.14 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Dystonia - isolated/combined v1.13 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.12 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.12 C9orf3 Zornitza Stark changed review comment from: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.

5 individuals from 4 unrelated families reported.
Sources: Literature; to: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.

5 individuals from 4 unrelated families reported.

HGNC approved name is AOPEP.
Sources: Literature
Dystonia - isolated/combined v1.12 C9orf3 Zornitza Stark Marked gene: C9orf3 as ready
Dystonia - isolated/combined v1.12 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.12 C9orf3 Zornitza Stark Classified gene: C9orf3 as Green List (high evidence)
Dystonia - isolated/combined v1.12 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.11 C9orf3 Zornitza Stark gene: C9orf3 was added
gene: C9orf3 was added to Dystonia - isolated/combined. Sources: Literature
new gene name tags were added to gene: C9orf3.
Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf3 were set to 34596301
Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565
Review for gene: C9orf3 was set to GREEN
Added comment: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.

5 individuals from 4 unrelated families reported.
Sources: Literature
Dystonia - isolated/combined v1.10 SHQ1 Zornitza Stark Marked gene: SHQ1 as ready
Dystonia - isolated/combined v1.10 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.10 SHQ1 Zornitza Stark Classified gene: SHQ1 as Amber List (moderate evidence)
Dystonia - isolated/combined v1.10 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.9 SHQ1 Zornitza Stark gene: SHQ1 was added
gene: SHQ1 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHQ1 were set to 34542157
Phenotypes for gene: SHQ1 were set to Dystonia
Review for gene: SHQ1 was set to AMBER
Added comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration. Rated Amber as phenotypes likely represent a continuum but currently unclear what proportion would have isolated dystonia.
Sources: Literature
Dystonia - isolated/combined v1.8 TAF1 Bryony Thompson Mode of inheritance for gene: TAF1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia - isolated/combined v1.7 TAF1 Bryony Thompson Classified gene: TAF1 as No list
Dystonia - isolated/combined v1.7 TAF1 Bryony Thompson Added comment: Comment on list classification: Added as an STR to the panel
Dystonia - isolated/combined v1.7 TAF1 Bryony Thompson Gene: taf1 has been removed from the panel.
Dystonia - isolated/combined v1.6 XDP Bryony Thompson Marked STR: XDP as ready
Dystonia - isolated/combined v1.6 XDP Bryony Thompson Str: xdp has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.6 XDP Bryony Thompson Classified STR: XDP as Green List (high evidence)
Dystonia - isolated/combined v1.6 XDP Bryony Thompson Str: xdp has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.5 XDP Bryony Thompson STR: XDP was added
STR: XDP was added to Dystonia - isolated/combined. Sources: Expert list
founder tags were added to STR: XDP.
Mode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: XDP were set to 17273961; 29229810
Phenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250
Review for STR: XDP was set to GREEN
STR: XDP was marked as clinically relevant
Added comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression.
Sources: Expert list
Dystonia - isolated/combined v1.4 ARFGEF3 Zornitza Stark Marked gene: ARFGEF3 as ready
Dystonia - isolated/combined v1.4 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.4 ARFGEF3 Zornitza Stark Classified gene: ARFGEF3 as Green List (high evidence)
Dystonia - isolated/combined v1.4 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.3 ARFGEF3 Laura Raiti gene: ARFGEF3 was added
gene: ARFGEF3 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF3 were set to PMID: 33098801
Phenotypes for gene: ARFGEF3 were set to Dystonia
Review for gene: ARFGEF3 was set to GREEN
Added comment: 3 x unrelated individuals
1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)
1x stop-gain variant c.1773T>G p.Tyr591* inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)
1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated)
Sources: Literature
Dystonia - isolated/combined v1.3 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Marked gene: VPS16 as ready
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Classified gene: VPS16 as Green List (high evidence)
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.1 VPS16 Zornitza Stark gene: VPS16 was added
gene: VPS16 was added to Dystonia - isolated/combined. Sources: Expert Review
Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS16 were set to 33482438; 33497487
Phenotypes for gene: VPS16 were set to Dystonia
Review for gene: VPS16 was set to GREEN
Added comment: Both isolated and complex dystonia reported in association with variants in this gene.
Sources: Expert Review
Dystonia - isolated/combined v1.0 Zornitza Stark promoted panel to version 1.0
Dystonia - isolated/combined v0.61 PODXL Zornitza Stark Marked gene: PODXL as ready
Dystonia - isolated/combined v0.61 PODXL Zornitza Stark Gene: podxl has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910 to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Dystonia - isolated/combined v0.60 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Dystonia - isolated/combined v0.59 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874165, 11113234, 15753436; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.59 TH Zornitza Stark Marked gene: TH as ready
Dystonia - isolated/combined v0.59 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.59 TH Zornitza Stark Phenotypes for gene: TH were changed from Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome; paediatric form of dopa responsive dystonia to Segawa syndrome, recessive, MIM# 605407; MONDO:0011551
Dystonia - isolated/combined v0.58 TH Zornitza Stark reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive, MIM# 605407, MONDO:0011551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Marked gene: SPR as ready
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994
Dystonia - isolated/combined v0.57 SPR Zornitza Stark Publications for gene: SPR were set to
Dystonia - isolated/combined v0.56 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11443547, 18502672, 22522443, 16532389, 31777525, 29147684, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716, MONDO:0012994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9 to Dystonia 9, MIM# 601042; MONDO:0010983
Dystonia - isolated/combined v0.55 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.54 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21832227, 30198221; Phenotypes: Dystonia 9, MIM# 601042, MONDO:0010983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Marked gene: SGCE as ready
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Dystonia - isolated/combined v0.53 SGCE Zornitza Stark Publications for gene: SGCE were set to
Dystonia - isolated/combined v0.52 SGCE Zornitza Stark reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12821748, 16227522; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200 to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494
Dystonia - isolated/combined v0.51 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Dystonia - isolated/combined v0.50 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200, MONDO:0007494
Dystonia - isolated/combined v0.50 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22101681, 22120146, 22744660, 22399141; Phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia to Dystonia 16, MIM# 612067; MONDO:0012789
Dystonia - isolated/combined v0.49 PRKRA Zornitza Stark Publications for gene: PRKRA were set to
Dystonia - isolated/combined v0.48 PRKRA Zornitza Stark Tag founder tag was added to gene: PRKRA.
Dystonia - isolated/combined v0.48 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 29279192; Phenotypes: Dystonia 16, MIM# 612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.48 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Dystonia - isolated/combined v0.48 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from early-onset dystonia; Dystonia 28, childhood-onset 617284 to early-onset dystonia; Dystonia 28, childhood-onset 617284; MONDO:0015004
Dystonia - isolated/combined v0.47 KMT2B Zornitza Stark Publications for gene: KMT2B were set to
Dystonia - isolated/combined v0.46 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.45 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Dystonia - isolated/combined v0.45 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v0.45 PNKD Zornitza Stark Marked gene: PNKD as ready
Dystonia - isolated/combined v0.45 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.45 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800 to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Dystonia - isolated/combined v0.44 PNKD Zornitza Stark Publications for gene: PNKD were set to
Dystonia - isolated/combined v0.43 PNKD Zornitza Stark edited their review of gene: PNKD: Changed phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326
Dystonia - isolated/combined v0.43 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.43 MECR Zornitza Stark Marked gene: MECR as ready
Dystonia - isolated/combined v0.43 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.43 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Dystonia - isolated/combined v0.42 MECR Zornitza Stark Publications for gene: MECR were set to
Dystonia - isolated/combined v0.41 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.41 HPCA Zornitza Stark Marked gene: HPCA as ready
Dystonia - isolated/combined v0.41 HPCA Zornitza Stark Gene: hpca has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.41 HPCA Zornitza Stark Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features to Dystonia 2, torsion, autosomal recessive, 224500; MONDO:0009141; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Dystonia - isolated/combined v0.40 HPCA Zornitza Stark Publications for gene: HPCA were set to
Dystonia - isolated/combined v0.39 HPCA Zornitza Stark edited their review of gene: HPCA: Changed phenotypes: Dystonia 2, torsion, autosomal recessive, MIM# 224500, MONDO:0009141
Dystonia - isolated/combined v0.39 HPCA Zornitza Stark reviewed gene: HPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25799108, 30991467, 30145809; Phenotypes: Dystonia 2, torsion, autosomal recessive, MIM# 224500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.39 GNAL Zornitza Stark Marked gene: GNAL as ready
Dystonia - isolated/combined v0.39 GNAL Zornitza Stark Gene: gnal has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.39 GNAL Zornitza Stark Phenotypes for gene: GNAL were changed from Dystonia 25, 615073 to Dystonia 25, MIM# 615073; MONDO:0014033
Dystonia - isolated/combined v0.38 GNAL Zornitza Stark Publications for gene: GNAL were set to
Dystonia - isolated/combined v0.37 GNAL Zornitza Stark edited their review of gene: GNAL: Changed phenotypes: Dystonia 25, MIM# 615073, MONDO:0014033
Dystonia - isolated/combined v0.37 GNAL Zornitza Stark reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222958, 33175450, 32180288; Phenotypes: Dystonia 25, MIM# 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.37 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Dystonia - isolated/combined v0.37 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.37 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Familial dyskinesia 606703; dystonia; Dyskinesia, familial, with facial myokymia, 606703 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707
Dystonia - isolated/combined v0.36 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to
Dystonia - isolated/combined v0.35 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707
Dystonia - isolated/combined v0.35 ADCY5 Zornitza Stark changed review comment from: Familial dyskinesia with facial myokymia is an autosomal dominant movement disorder characterized by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles.

Multiple families reported. Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.; to: Familial dyskinesia with facial myokymia is an autosomal dominant movement disorder characterized by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles.

Multiple families reported.

Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.
Dystonia - isolated/combined v0.35 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.35 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Dystonia - isolated/combined v0.35 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.35 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-coa hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277; Dystonia
Dystonia - isolated/combined v0.34 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to
Dystonia - isolated/combined v0.33 ECHS1 Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32858208; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.33 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Dystonia - isolated/combined v0.33 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.33 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235 to Dystonia-12, MIM# 128235; Rapid dystonia-parkinsonism MONDO:0007496
Dystonia - isolated/combined v0.32 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Dystonia - isolated/combined v0.31 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 17282997, 19351654; Phenotypes: Dystonia-12, MIM# 128235, Rapid dystonia-parkinsonism MONDO:0007496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.31 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Dystonia - isolated/combined v0.31 THAP1 Zornitza Stark Gene: thap1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.31 THAP1 Zornitza Stark Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264
Dystonia - isolated/combined v0.30 THAP1 Zornitza Stark Publications for gene: THAP1 were set to
Dystonia - isolated/combined v0.29 THAP1 Ain Roesley reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, (MIM#60262); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia - isolated/combined v0.29 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Dystonia - isolated/combined v0.29 VPS11 Zornitza Stark Gene: vps11 has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v0.29 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Dystonia - isolated/combined. Sources: Literature
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 33452836
Phenotypes for gene: VPS11 were set to Dystonia, adult-onset
Review for gene: VPS11 was set to RED
Added comment: Single individual reported with adult-onset generalised dystonia and homozygous missense variant in this gene. Note bi-allelic variants in this gene are associated with a leukodystrophy.
Sources: Literature
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Gene: ano3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Publications for gene: ANO3 were set to
Dystonia - isolated/combined v0.27 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.26 ANO3 Michelle Torres reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33388357; Phenotypes: Dystonia 24 (MIM#615034); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.26 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Dystonia - isolated/combined v0.26 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.26 TOR1A Zornitza Stark Publications for gene: TOR1A were set to
Dystonia - isolated/combined v0.25 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9288096, 19955557, 18477710, 32243914, 31583275, 31347572; Phenotypes: Dystonia-1, torsion, MIM#128100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.25 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Dystonia - isolated/combined v0.25 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.25 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia to hereditary whispering dysphonia; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Dystonia - isolated/combined v0.24 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Dystonia - isolated/combined v0.23 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.22 TUBB4A Zornitza Stark reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23424103, 23595291, 33084096, 32943487; Phenotypes: Dystonia 4, torsion, autosomal dominant, MIM# 128101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.22 KCTD17 Zornitza Stark Marked gene: KCTD17 as ready
Dystonia - isolated/combined v0.22 KCTD17 Zornitza Stark Gene: kctd17 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.22 KCTD17 Zornitza Stark Phenotypes for gene: KCTD17 were changed from Dystonia 26, myoclonic to Dystonia 26, myoclonic MIM#616398
Dystonia - isolated/combined v0.21 KCTD17 Zornitza Stark Publications for gene: KCTD17 were set to
Dystonia - isolated/combined v0.20 TAF1 Zornitza Stark Marked gene: TAF1 as ready
Dystonia - isolated/combined v0.20 TAF1 Zornitza Stark Gene: taf1 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v0.20 TAF1 Zornitza Stark Tag deep intronic tag was added to gene: TAF1.
Tag founder tag was added to gene: TAF1.
Dystonia - isolated/combined v0.20 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Dystonia - isolated/combined v0.19 TAF1 Zornitza Stark Classified gene: TAF1 as Amber List (moderate evidence)
Dystonia - isolated/combined v0.19 TAF1 Zornitza Stark Gene: taf1 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v0.18 TAF1 Zornitza Stark reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17273961; Phenotypes: Dystonia-Parkinsonism, X-linked, MIM# 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia - isolated/combined v0.18 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058447; Phenotypes: Early onset chorea without epilepsy, infantile onset limb and orofacial dyskinesia (OMIM 616921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.18 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Dystonia - isolated/combined v0.18 PDE10A Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.18 PDE10A Zornitza Stark Classified gene: PDE10A as Green List (high evidence)
Dystonia - isolated/combined v0.18 PDE10A Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.17 PDE10A Eunice Chan commented on gene: PDE10A: Due to marked fluctuations in movement disorder that can be seen ?consider adding to PxD panel also
Dystonia - isolated/combined v0.17 PDE10A Eunice Chan gene: PDE10A was added
gene: PDE10A was added to Dystonia - isolated/combined. Sources: Expert list
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to PMID 27058447
Phenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)
Added comment: Generalised dyskinesia (chorea, ballismus, orolingual dyskinesia), axial hypotonia, dysarthria
Bilateral striatal lesions on MRI
Sources: Expert list
Dystonia - isolated/combined v0.17 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Dystonia 27 to Dystonia 27, MIM#616411
Dystonia - isolated/combined v0.16 COL6A3 Zornitza Stark Publications for gene: COL6A3 were set to
Dystonia - isolated/combined v0.15 COL6A3 Zornitza Stark commented on gene: COL6A3: PMID: 32037012 - Panda and Sharawat 2020 - report a new case of COL6A3 mutation associated early-onset isolated dystonia-DYT27 in an 8 year old boy. Compound heterozygous variants in exons 10 and 12 found (p.Gly1517Ser and p.Pro1894Leu).
Dystonia - isolated/combined v0.15 COL6A3 Zornitza Stark edited their review of gene: COL6A3: Changed publications: 26004199, 32037012, 26872670, 32037012
Dystonia - isolated/combined v0.15 Zornitza Stark removed gene:SLC18A2 from the panel
Dystonia - isolated/combined v0.14 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Dystonia - isolated/combined v0.14 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.14 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Dystonia - isolated/combined v0.14 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.13 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Dystonia - isolated/combined. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications.
Sources: Expert Review
Dystonia - isolated/combined v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Dystonia - isolated/combined v0.9 PODXL Bryony Thompson changed review comment from: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings.
Sources: Expert list; to: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings. There is high evidence that both monoallelic and biallelic variants cause FSGS.
Sources: Expert list
Dystonia - isolated/combined v0.9 PODXL Bryony Thompson gene: PODXL was added
gene: PODXL was added to Dystonia - isolated/combined. Sources: Expert list
Mode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PODXL were set to 26864383
Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease
Review for gene: PODXL was set to RED
Added comment: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings.
Sources: Expert list
Dystonia - isolated/combined v0.8 PARK7 Bryony Thompson Classified gene: PARK7 as Green List (high evidence)
Dystonia - isolated/combined v0.8 PARK7 Bryony Thompson Gene: park7 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.7 PARK7 Bryony Thompson gene: PARK7 was added
gene: PARK7 was added to Dystonia - isolated/combined. Sources: Expert list
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARK7 were set to 29644727
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Review for gene: PARK7 was set to GREEN
Added comment: Dystonia reported in 46% (14/30) of cases with PARK7-related PD. Dystonia plus parkinsonism can be classified as combined dystonia.
Sources: Expert list
Dystonia - isolated/combined v0.6 KCTD17 Bryony Thompson edited their review of gene: KCTD17: Changed rating: GREEN
Dystonia - isolated/combined v0.6 KCTD17 Bryony Thompson reviewed gene: KCTD17: Rating: ; Mode of pathogenicity: None; Publications: 25983243, 30642807, 30579817; Phenotypes: Dystonia 26, myoclonic MIM#616398; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.6 KCNMA1 Bryony Thompson Marked gene: KCNMA1 as ready
Dystonia - isolated/combined v0.6 KCNMA1 Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.6 KCNMA1 Bryony Thompson Classified gene: KCNMA1 as Green List (high evidence)
Dystonia - isolated/combined v0.6 KCNMA1 Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.5 KCNMA1 Bryony Thompson gene: KCNMA1 was added
gene: KCNMA1 was added to Dystonia - isolated/combined. Sources: Expert list
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 26195193; 15937479; 29356177
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446
Mode of pathogenicity for gene: KCNMA1 was set to Other
Review for gene: KCNMA1 was set to GREEN
Added comment: One family segregating a heterozygous variant and 3 cases with de novo variants with paroxysmal nonkinesigenic dyskinesia with or without other features such as developmental delay or epilepsy. 7 members of the large family and a single de novo have isolated PNKD, which is classified as a combined dystonia. Functional assays show gain-of-function for missense variant segregating in the large family.
Sources: Expert list
Dystonia - isolated/combined v0.4 COL6A3 Bryony Thompson Marked gene: COL6A3 as ready
Dystonia - isolated/combined v0.4 COL6A3 Bryony Thompson Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v0.4 COL6A3 Bryony Thompson Classified gene: COL6A3 as Amber List (moderate evidence)
Dystonia - isolated/combined v0.4 COL6A3 Bryony Thompson Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v0.3 CIZ1 Bryony Thompson reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27163549, 29154038, 22447717; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.2 Bryony Thompson Panel name changed from Dystonia - isolated/combined_RMH to Dystonia - isolated/combined
Panel types changed to Royal Melbourne Hospital; Rare Disease
Dystonia - isolated/combined v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Dystonia - isolated/combined v0.0 TOR1A Bryony Thompson gene: TOR1A was added
gene: TOR1A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100
Dystonia - isolated/combined v0.0 THAP1 Bryony Thompson gene: THAP1 was added
gene: THAP1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Dystonia - isolated/combined v0.0 TH Bryony Thompson gene: TH was added
gene: TH was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome; paediatric form of dopa responsive dystonia
Dystonia - isolated/combined v0.0 TAF1 Bryony Thompson gene: TAF1 was added
gene: TAF1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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)
Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Dystonia - isolated/combined v0.0 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Dystonia - isolated/combined v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9
Dystonia - isolated/combined v0.0 SGCE Bryony Thompson gene: SGCE was added
gene: SGCE was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SGCE were set to maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia
Dystonia - isolated/combined v0.0 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRT2 were set to dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200
Dystonia - isolated/combined v0.0 PRKRA Bryony Thompson gene: PRKRA was added
gene: PRKRA was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKRA were set to early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia
Dystonia - isolated/combined v0.0 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800
Dystonia - isolated/combined v0.0 MECR Bryony Thompson gene: MECR was added
gene: MECR was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Dystonia - isolated/combined v0.0 KMT2B Bryony Thompson gene: KMT2B was added
gene: KMT2B was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2B were set to early-onset dystonia; Dystonia 28, childhood-onset 617284
Dystonia - isolated/combined v0.0 KCTD17 Bryony Thompson gene: KCTD17 was added
gene: KCTD17 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic
Dystonia - isolated/combined v0.0 HPCA Bryony Thompson gene: HPCA was added
gene: HPCA was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Dystonia - isolated/combined v0.0 GNAL Bryony Thompson gene: GNAL was added
gene: GNAL was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAL were set to Dystonia 25, 615073
Dystonia - isolated/combined v0.0 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910
Dystonia - isolated/combined v0.0 ECHS1 Bryony Thompson gene: ECHS1 was added
gene: ECHS1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Dystonia - isolated/combined v0.0 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Dystonia 27
Dystonia - isolated/combined v0.0 CIZ1 Bryony Thompson gene: CIZ1 was added
gene: CIZ1 was added to Dystonia - isolated/combined_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIZ1 were set to 27163549; 29154038; 22447717
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Dystonia - isolated/combined v0.0 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235
Dystonia - isolated/combined v0.0 ANO3 Bryony Thompson gene: ANO3 was added
gene: ANO3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Dystonia - isolated/combined v0.0 ADCY5 Bryony Thompson gene: ADCY5 was added
gene: ADCY5 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703; dystonia; Dyskinesia, familial, with facial myokymia, 606703
Dystonia - isolated/combined v0.0 Bryony Thompson Added panel Dystonia - isolated/combined_RMH