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Childhood onset dystonia, chorea or related movement disorder v3.74 | PRNP | Arina Puzriakova changed review comment from: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group.; to: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene is almost always in adulthood and poses risk of incidental findings, inclusion of PRNP on this panel should be reviewed by the GMS specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.74 | PRNP | Arina Puzriakova Classified gene: PRNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.74 | PRNP | Arina Puzriakova Added comment: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.74 | PRNP | Arina Puzriakova Gene: prnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.73 | PRNP | Arina Puzriakova Phenotypes for gene: PRNP were changed from Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Cerebral amyloid angiopathy, PRNP-related 137440; Gerstmann-Straussler disease 137440 to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Huntington disease-like 1, OMIM:603218; Gerstmann-Straussler disease, OMIM:137440; Creutzfeldt-Jakob disease, OMIM:123400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.72 | PRNP | Arina Puzriakova Publications for gene: PRNP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.71 | PRNP |
Arina Puzriakova Tag Q1_24_demote_red tag was added to gene: PRNP. Tag Q1_24_expert_review tag was added to gene: PRNP. |
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Childhood onset dystonia, chorea or related movement disorder v3.71 | PRNP | Arina Puzriakova reviewed gene: PRNP: Rating: ; Mode of pathogenicity: None; Publications: 16831973; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.71 | HSD17B10 | Arina Puzriakova Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308; 12872843; 12555940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.70 | HSD17B10 | Arina Puzriakova changed review comment from: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 31654490); to: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 27295195; 31654490) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.70 | HSD17B10 | Arina Puzriakova Classified gene: HSD17B10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.70 | HSD17B10 | Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 31654490) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.70 | HSD17B10 | Arina Puzriakova Gene: hsd17b10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.69 | HSD17B10 | Arina Puzriakova Publications for gene: HSD17B10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.68 | HSD17B10 | Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: HSD17B10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.68 | HSD17B10 | Arina Puzriakova reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19706438, 22132097, 12696021, 26950678, 27604308, 12872843, 12555940; Phenotypes: HSD10 mitochondrial disease, OMIM:300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.68 | HSD17B10 | Arina Puzriakova Mode of inheritance for gene: HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.67 | HSD17B10 | Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, OMIM:300438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.66 | ACBD6 | Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.66 | ACBD6 |
Arina Puzriakova gene: ACBD6 was added gene: ACBD6 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Expert Review Amber Q1_24_promote_green tags were added to gene: ACBD6. Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092 Penetrance for gene: ACBD6 were set to Complete |
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Childhood onset dystonia, chorea or related movement disorder v3.65 | ASL |
Eleanor Williams changed review comment from: Argininosuccinic aciduria (ASA) is caused by homozygous mutation in the gene encoding argininosuccinate lyase (ASL). Onset is typically in the neonatal period or in late infancy. The association of biallelic variants in ASL and the phenotype of Argininosuccinic aciduria is well established. e.g. PMID: 12384776 - Linnebank et al 2002 - homozygous/compound het variants in ASL in 27 unrelated individuals of different ancestries. No phenotype information is given. They also found a complete homologue of this gene on chr 22 which is predicted to encode an immunoglobulin-lambda-like mRNA. PMID: 17326097 - Trevisson et al 2007 - report homozygous/compound het variants in ASL in 12 Italian patients with ASA. Ataxia is not mentioned as a phenotypic feature. PMID: 29326055 - AlTassan et al 2018 - a retrospective review of 54 Saudi Arabian patients with ASA from January 2000 to December 2015. 35 patients (63%) had genetic data available all with variants in the ASL gene; c.1060C > T; p.(Gln354*) in 26 patients (likely founder mutation); c.556C > T; p.(Arg186Trp) in 7 patients, c.602+1G > T in one patient and 1062+5G > C in one patient. 7/10 patients are reported to show spasticity although it is not reporterd whether they all shared the same founder variant in ASL. More recent retrospectives show that ataxia is reported in approx. 10% of individuals with Argininosuccinic aciduria. 2 cases with ataxia and ASL variant identified are reported. PMID: 38044746 - Gurung et al 2023 - conducted a UK national multicentre retrospective study assessing the movement disorder phenotype in ASA patients from July 2015 to June 2022. 60 patients were studied with a median age of 12.7 years (range: 6 months to 53 years). 17 (28%) individuals had ASA with neurodegenerative-related symptoms, movement disorder, hypotonia/fatigue and abnormal behaviour. Of these 4 were reported to show tremor/dystonia, with this phenotype present at ages 9, 11, 24 and 25 years of age. Homozygous or compound het ASL variants were recorded in 25/60 patients including 3 out of the 4 patients with tremor/dystonia (patients 4,9 and 25 with c.719-2A>G; c.857A>G, c.1153C>T; c.1153C>T and c.437G>A; c.446+1G>A respectively). Genotype data was not available for other patients. Although patient 4 from this study and patient 9 from the Baruteau et al 2017 study share the same genotype and are both male, their phenotypic descriptions differ so assuming here that they are not the same patient. PMID: 28251416 - Baruteau et al 2017 - conducted a retrospective and prospective analysis of patients in the UK with ASA from March 2013 - December 2015. Tremors or dystonia were reported in 4 individuals (1,4,9 and 25). All were diagnosed before the age of 3 although it is not stated at what age the tremors/dystonia were first noted. The first 3 of these patients had homozygous or compound het variants in ASL identified (c.35G>A;c.35G>A, c.377G>A;c.377G>A and c.719-2A>G, c.857A>G respectively). (PMID: 36994644 - Elkhateeb et al 2023 - characterise the incidence of epilepsy in patients with ASA. ); to: Argininosuccinic aciduria (ASA) is caused by homozygous mutation in the gene encoding argininosuccinate lyase (ASL). Onset is typically in the neonatal period or in late infancy. The association of biallelic variants in ASL and the phenotype of Argininosuccinic aciduria is well established. e.g. PMID: 12384776 - Linnebank et al 2002 - homozygous/compound het variants in ASL in 27 unrelated individuals of different ancestries, PMID: 17326097 - Trevisson et al 2007 - report homozygous/compound het variants in ASL in 12 Italian patients with ASA. PMID: 29326055 - AlTassan et al 2018 - a retrospective review of 54 Saudi Arabian patients with ASA from January 2000 to December 2015. 35 patients (63%) had genetic data available all with variants in the ASL gene; c.1060C > T; p.(Gln354*) in 26 patients (likely founder mutation); c.556C > T; p.(Arg186Trp) in 7 patients, c.602+1G > T in one patient and 1062+5G > C in one patient. More recent retrospectives show that tremors and/or dystonia is reported in some individuals with Argininosuccinic aciduria. 6 cases with ataxia and ASL variant identified are reported. PMID: 38044746 - Gurung et al 2023 - conducted a UK national multicentre retrospective study assessing the movement disorder phenotype in ASA patients from July 2015 to June 2022. 60 patients were studied with a median age of 12.7 years (range: 6 months to 53 years). 17 (28%) individuals had ASA with neurodegenerative-related symptoms, movement disorder, hypotonia/fatigue and abnormal behaviour. Of these 4 were reported to show tremor/dystonia, with this phenotype present at ages 9, 11, 24 and 25 years of age. Homozygous or compound het ASL variants were recorded in 25/60 patients including 3 out of the 4 patients with tremor/dystonia (patients 4,9 and 25 with c.719-2A>G; c.857A>G, c.1153C>T; c.1153C>T and c.437G>A; c.446+1G>A respectively). Genotype data was not available for other patients. Although patient 4 from this study and patient 9 from the Baruteau et al 2017 study share the same genotype and are both male, their phenotypic descriptions differ so assuming here that they are not the same patient. PMID: 28251416 - Baruteau et al 2017 - conducted a retrospective and prospective analysis of patients in the UK with ASA from March 2013 - December 2015. Tremors or dystonia were reported in 4 individuals (1,4,9 and 25). All were diagnosed before the age of 3 although it is not stated at what age the tremors/dystonia were first noted. The first 3 of these patients had homozygous or compound het variants in ASL identified (c.35G>A;c.35G>A, c.377G>A;c.377G>A and c.719-2A>G, c.857A>G respectively). (PMID: 36994644 - Elkhateeb et al 2023 - characterise the incidence of epilepsy in patients with ASA. ) |
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Childhood onset dystonia, chorea or related movement disorder v3.65 | ASL |
Eleanor Williams Tag Q4_23_promote_green tag was added to gene: ASL. Tag Q4_23_NHS_review tag was added to gene: ASL. |
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Childhood onset dystonia, chorea or related movement disorder v3.65 | ASL | Eleanor Williams Classified gene: ASL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.65 | ASL | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber, with a recommendation of green rating subject to GMS review. 6 patients with tremor and/or dystonia and variants identified in the ASL gene (from PMID: 38044746 - Gurung et al 2023 and PMID: 28251416 - Baruteau et al 2017). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.65 | ASL | Eleanor Williams Gene: asl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.64 | ASL | Eleanor Williams Mode of inheritance for gene: ASL was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.63 | ASL | Eleanor Williams Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815; tremor, HP:0001337; Dystonia, HP:0001332 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.62 | ASL | Eleanor Williams Publications for gene: ASL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.61 | ASL | Eleanor Williams reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 12384776, 17326097, 29326055, 38044746, 28251416; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.61 | SHQ1 | Sarah Leigh Classified gene: SHQ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.61 | SHQ1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.61 | SHQ1 | Sarah Leigh Gene: shq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.60 | SHQ1 | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SHQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.60 | SHQ1 | Sarah Leigh commented on gene: SHQ1: SHQ1 variants are associated with Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 and Dystonia 35, childhood-onset, OMIM:619921, but not with a phenotype in Gen2Phen. At least 10 SHQ1 variants have been reported (PMIDs: 29178645 34542157; 36810590; 36847845) in eight unrelated cases. The phenotypic features were dystonia (7/7 cases examined), hypotonia (6/7 cases examined), intellectual disability (7/8 cases examined), and seizures (in 4/6 cases and 2 further unrelated cases where remaining affected siblings did not have seizures (1/2 and 3/4)(PMID: 36847845). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.60 | SHQ1 | Sarah Leigh reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.60 | SHQ1 | Sarah Leigh Publications for gene: SHQ1 were set to 34542157; 29178645; 36810590; 36847845; 36416405; 37475611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.59 | SHQ1 | Sarah Leigh Publications for gene: SHQ1 were set to 34542157; 29178645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.58 | SHQ1 | Sarah Leigh Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to ?Dystonia 35, childhood-onset, OMIM:619921; dystonia 35, childhood-onset, MONDO:0030958; Neurodevelopmental disorder with dystonia and seizures, OMIM:619922; neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.57 | SHQ1 | Sarah Leigh Classified gene: SHQ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.57 | SHQ1 | Sarah Leigh Gene: shq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.56 | AFG3L2 |
Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: AFG3L2. Tag Q2_21_phenotype was removed from gene: AFG3L2. |
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Childhood onset dystonia, chorea or related movement disorder v3.56 | ASL | Nour Elkhateeb reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: 38044746, 36994644, 28251416; Phenotypes: Movement disorder, tremor, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.56 | KMT2B | Arina Puzriakova Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset 617284; early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.55 | SLC12A3 |
Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3. |
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Childhood onset dystonia, chorea or related movement disorder v3.53 | ARX | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ARX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.53 | ARX |
Sarah Leigh changed review comment from: A review by Eldar Dedic (Independent Clinical Genetics Consultant) Kwong, et al. (2019, PMID: 31324350) presented a Chinese family with infantile epileptic dyskinetic encephalopathy. The whole-exome-sequencing revealed ARX c.989G>A (p.Arg330His) in 13 years of age affected proband (who also suffered from dystonia), as well as in his unaffected mother and sister. Proband also had a healthy older brother who did not carry the variant. The proband’s muscle whole mitochondrial DNA analysis did not show the presence of a pathogenic variant. - Please note that ARX c.989G>A (p.Arg330His) was absent from gnomAD v2.1.1 as of December 2021 Gorman, et al. (2018, PMID: 29778428) presented 2 years of age Ohtahara syndrome male case of Romanian origin. Whole-exome-sequencing revealed ARX c.1600G>C (p.Ala534Pro) variant in a patient (who also had dystonia) and in his healthy mother (who was a low-level mosaic). The proband was negative for chromosomal array testing and had a normal brain MRI. - Please note that ARX c.1600G>C (p.Ala534Pro) was absent from gnomAD v2.1.1 as of December 2021 Charzewska, et al. (2013, PMID: 23657928) presented a family with intellectual disability and dystonia. Sequencing of ARX revealed the presence of c.4A>T (p.Ser2Cys) variant in 4 affected males (including 2 who had onset of dystonia at 2nd day of life and 12 years of age, respectively) and in 5 female carriers. - Please note that ARX c.4A>T (p.Ser2Cys) was absent from gnomAD v2.1.1 as of December 2021 Breen, et al. (2018, PMID: 29343471) presented 12 years of age male case with intellectual disability and hand dystonia. The ARX c.426_458dup (p.Gly143_Ala153dup) variant has been reported in the proband, his cousin and maternal uncle from Pakistan, both of which had hand dystonia, as well as in his unaffected mother. The patient had whole-exome-sequencing as one of the previous tests carried out. - Please note that ARX c.426_458dup (p.Gly143_Ala153dup) was absent from gnomAD v2.1.1 as of December 2021; to: A review by Eldar Dedic (Independent Clinical Genetics Consultant): Kwong, et al. (2019, PMID: 31324350) presented a Chinese family with infantile epileptic dyskinetic encephalopathy. The whole-exome-sequencing revealed ARX c.989G>A (p.Arg330His) in 13 years of age affected proband (who also suffered from dystonia), as well as in his unaffected mother and sister. Proband also had a healthy older brother who did not carry the variant. The proband’s muscle whole mitochondrial DNA analysis did not show the presence of a pathogenic variant. - Please note that ARX c.989G>A (p.Arg330His) was absent from gnomAD v2.1.1 as of December 2021 Gorman, et al. (2018, PMID: 29778428) presented 2 years of age Ohtahara syndrome male case of Romanian origin. Whole-exome-sequencing revealed ARX c.1600G>C (p.Ala534Pro) variant in a patient (who also had dystonia) and in his healthy mother (who was a low-level mosaic). The proband was negative for chromosomal array testing and had a normal brain MRI. - Please note that ARX c.1600G>C (p.Ala534Pro) was absent from gnomAD v2.1.1 as of December 2021 Charzewska, et al. (2013, PMID: 23657928) presented a family with intellectual disability and dystonia. Sequencing of ARX revealed the presence of c.4A>T (p.Ser2Cys) variant in 4 affected males (including 2 who had onset of dystonia at 2nd day of life and 12 years of age, respectively) and in 5 female carriers. - Please note that ARX c.4A>T (p.Ser2Cys) was absent from gnomAD v2.1.1 as of December 2021 Breen, et al. (2018, PMID: 29343471) presented 12 years of age male case with intellectual disability and hand dystonia. The ARX c.426_458dup (p.Gly143_Ala153dup) variant has been reported in the proband, his cousin and maternal uncle from Pakistan, both of which had hand dystonia, as well as in his unaffected mother. The patient had whole-exome-sequencing as one of the previous tests carried out. - Please note that ARX c.426_458dup (p.Gly143_Ala153dup) was absent from gnomAD v2.1.1 as of December 2021 |
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Childhood onset dystonia, chorea or related movement disorder v3.53 | ARX |
Sarah Leigh commented on gene: ARX: A review by Eldar Dedic (Independent Clinical Genetics Consultant) Kwong, et al. (2019, PMID: 31324350) presented a Chinese family with infantile epileptic dyskinetic encephalopathy. The whole-exome-sequencing revealed ARX c.989G>A (p.Arg330His) in 13 years of age affected proband (who also suffered from dystonia), as well as in his unaffected mother and sister. Proband also had a healthy older brother who did not carry the variant. The proband’s muscle whole mitochondrial DNA analysis did not show the presence of a pathogenic variant. - Please note that ARX c.989G>A (p.Arg330His) was absent from gnomAD v2.1.1 as of December 2021 Gorman, et al. (2018, PMID: 29778428) presented 2 years of age Ohtahara syndrome male case of Romanian origin. Whole-exome-sequencing revealed ARX c.1600G>C (p.Ala534Pro) variant in a patient (who also had dystonia) and in his healthy mother (who was a low-level mosaic). The proband was negative for chromosomal array testing and had a normal brain MRI. - Please note that ARX c.1600G>C (p.Ala534Pro) was absent from gnomAD v2.1.1 as of December 2021 Charzewska, et al. (2013, PMID: 23657928) presented a family with intellectual disability and dystonia. Sequencing of ARX revealed the presence of c.4A>T (p.Ser2Cys) variant in 4 affected males (including 2 who had onset of dystonia at 2nd day of life and 12 years of age, respectively) and in 5 female carriers. - Please note that ARX c.4A>T (p.Ser2Cys) was absent from gnomAD v2.1.1 as of December 2021 Breen, et al. (2018, PMID: 29343471) presented 12 years of age male case with intellectual disability and hand dystonia. The ARX c.426_458dup (p.Gly143_Ala153dup) variant has been reported in the proband, his cousin and maternal uncle from Pakistan, both of which had hand dystonia, as well as in his unaffected mother. The patient had whole-exome-sequencing as one of the previous tests carried out. - Please note that ARX c.426_458dup (p.Gly143_Ala153dup) was absent from gnomAD v2.1.1 as of December 2021 |
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Childhood onset dystonia, chorea or related movement disorder v3.53 | ARX | Sarah Leigh reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 31324350, 29778428, 23657928, 29343471; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.53 | ARX | Sarah Leigh Phenotypes for gene: ARX were changed from Partington Syndrome, 300382 to Developmental and epileptic encephalopathy 1, OMIM:308350; X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856; Partington syndrome, OMIM:309510; Partington syndrome, MONDO:0010654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.52 | ARX | Sarah Leigh Publications for gene: ARX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.51 | FOXG1 | Arina Puzriakova Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND5 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND4L | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND4 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ND1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-CO3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ADAR | Eleanor Williams commented on gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ADAR | Eleanor Williams Tag Q4_22_MOI was removed from gene: ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | SPATA5L1 | Achchuthan Shanmugasundram commented on gene: SPATA5L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ARFGEF3 | Eleanor Williams Tag gene-checked tag was added to gene: ARFGEF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ARFGEF3 | Eleanor Williams changed review comment from: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark.; to: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark. Adding the gene-checked tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ARFGEF3 | Eleanor Williams commented on gene: ARFGEF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | NUP54 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: NUP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | COX20 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ARFGEF3 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: ARFGEF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | NUP54 | Sarah Leigh reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | COX20 | Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ARFGEF3 | Sarah Leigh reviewed gene: ARFGEF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.50 | ADAR | Sarah Leigh reviewed gene: ADAR: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.49 | NUP54 |
Sarah Leigh Source NHS GMS was added to NUP54. Source Expert Review Green was added to NUP54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v3.49 | COX20 |
Sarah Leigh Source NHS GMS was added to COX20. Source Expert Review Green was added to COX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v3.49 | ARFGEF3 |
Sarah Leigh Source NHS GMS was added to ARFGEF3. Source Expert Review Green was added to ARFGEF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v3.49 | ADAR |
Sarah Leigh Source NHS GMS was added to ADAR. Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Childhood onset dystonia, chorea or related movement disorder v3.48 | SPATA5L1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND5 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND4L | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND4 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ND1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-CO3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | PDGFB | Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.48 | PDGFB | Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, OMIM:615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.47 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140; 35747618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.46 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.45 | PDGFB | Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Added comment: Comment on publications: ;23913003;30952898;30609140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN |
Sarah Leigh Tag Q3_23_expert_review tag was added to gene: OCLN. Tag Q3_23_demote_red tag was added to gene: OCLN. |
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Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh edited their review of gene: OCLN: Added comment: It would appear that there are no published reports of dystonia, chorea or related movement disorder in cases carrying OCLN variants (PMID:20727516;34704946;34573918;28386946).; Changed rating: RED; Changed publications to: 20727516, 34704946, 34573918, 28386946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Classified gene: OCLN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Added comment: Comment on list classification: To date, there are no reports of dystonia, chorea or other movement disorders associated with OCLN variants (PMID: 20727516;34704946;34573918;28386946). Therefore this gene should not be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Gene: ocln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.42 | KCNQ2 | Sarah Leigh Classified gene: KCNQ2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.42 | KCNQ2 | Sarah Leigh Added comment: Comment on list classification: There is only one case (PMID:12742592), of dystonia in a patient carrying a KCNQ2 variant. To date, there are no reports of relevant chorea or other movement disorders associated with KCNQ2 variants (PMID: 22275249;22926866;23621294;31418850;35780567;33794528). Therefore this gene should not be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.42 | KCNQ2 | Sarah Leigh Gene: kcnq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.41 | KCNQ2 | Sarah Leigh Tag Q3_23_expert_review tag was added to gene: KCNQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.41 | KCNQ2 | Sarah Leigh Tag Q3_23_demote_red tag was added to gene: KCNQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.41 | KCNQ2 | Sarah Leigh reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.41 | KCNQ2 | Sarah Leigh Publications for gene: KCNQ2 were set to 12742592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.40 | KCNQ2 | Sarah Leigh Phenotypes for gene: KCNQ2 were changed from Myokymia, 121200; Dystonia to Developmental and epileptic encephalopathy 7, OMIM:613720; developmental and epileptic encephalopathy, 7, MONDO:0013387; Myokymia, OMIM:121200; Seizures, benign neonatal, 1, OMIM:121200; seizures, benign familial neonatal, 1, MONDO:0007365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.39 | KCNQ2 | Sarah Leigh Publications for gene: KCNQ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.38 | L2HGDH |
Achchuthan Shanmugasundram changed review comment from: PMID:15824270 - A 15 year-old boy with L-2-hydroxyglutaric aciduria was reported with early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy. PMID:18780161 - Of seven patients from three unrelated Tunisian families with L-2-hydroxyglutaric aciduria and with homozygous variants in L2HGDH gene, three patients from two different families had dystonia. PMID:24753671 - Two siblings were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid.; to: PMID:15824270 - A 15 year-old boy with L-2-hydroxyglutaric aciduria was reported with early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy. PMID:18780161 - Of seven patients from three unrelated Tunisian families with L-2-hydroxyglutaric aciduria and with homozygous variants in L2HGDH gene, three patients from two different families had dystonia. The age of onset of the disorder in these patients is around six years. PMID:24753671 - Two siblings (13 and 16 years of age with disease onset at 10 years of age) were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid. |
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Childhood onset dystonia, chorea or related movement disorder v3.38 | SYT1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated children with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.38 | SYT1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.38 | SLC12A3 | Sarah Leigh Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.37 | SLC12A3 |
Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3. Tag monogenic - polygenic tag was added to gene: SLC12A3. |
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Childhood onset dystonia, chorea or related movement disorder v3.37 | SLC12A3 | Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.37 | SLC12A3 | Sarah Leigh Publications for gene: SLC12A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.36 | SLC12A3 | Sarah Leigh commented on gene: SLC12A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.36 | SLC18A2 | Achchuthan Shanmugasundram Classified gene: SLC18A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.36 | SLC18A2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (at least four unrelated cases and functional evidence) available for the association of this gene to movement disorders including dystonia. Hence, this gene can be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.36 | SLC18A2 | Achchuthan Shanmugasundram Gene: slc18a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.35 | SLC18A2 | Achchuthan Shanmugasundram Phenotypes for gene: SLC18A2 were changed from Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency to ?Parkinsonism-dystonia, infantile, 2, OMIM:618049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.34 | SLC18A2 | Achchuthan Shanmugasundram Publications for gene: SLC18A2 were set to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.33 | SLC18A2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SLC18A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.33 | SLC18A2 |
Achchuthan Shanmugasundram changed review comment from: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action. PMID:26497564 - Two male siblings from a consanguineous fancy was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His).; to: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action. PMID:26497564 - Two male siblings from a consanguineous family was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His). PMID:31240161 - A child from a consanguineous family presented with hypotonia, mental disability, epilepsy, uncontrolled movements, and gastrointestinal problems and was identified with a homozygous SLC18A2 variant (p.Pro316Ala). PMID:34078222 - A 6-month-old male infant who presented with developmental delay and suspected cerebral palsy was also diagnosed with infantile parkinsonism-dystonia-2 and was identified with the homozygous variant (p.Pro237His) reported in PMID:26497564. This gene has been associated with relevant phenotypes in OMIM (PMID:618049), but not in Gene2Phenotype. |
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Childhood onset dystonia, chorea or related movement disorder v3.33 | SLC18A2 |
Achchuthan Shanmugasundram commented on gene: SLC18A2: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action. PMID:26497564 - Two male siblings from a consanguineous fancy was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His). |
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Childhood onset dystonia, chorea or related movement disorder v3.33 | SLC18A2 | Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473, 26497564, 31240161, 34078222; Phenotypes: ?Parkinsonism-dystonia, infantile, 2, OMIM:618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.33 | TBC1D24 | Achchuthan Shanmugasundram Classified gene: TBC1D24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.33 | TBC1D24 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases reported with dystonia as a feature of the overall phenotype. Hence, this gene can be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.33 | TBC1D24 | Achchuthan Shanmugasundram Gene: tbc1d24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.32 | TBC1D24 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D24 were changed from Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 to Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105; Developmental and epileptic encephalopathy 16, OMIM:615338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.31 | TBC1D24 | Achchuthan Shanmugasundram Publications for gene: TBC1D24 were set to 31257402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | TBC1D24 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TBC1D24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | TBC1D24 | Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21087195, 23343562, 31257402; Phenotypes: Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105, Developmental and epileptic encephalopathy 16, OMIM:615338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | SYT1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | SYT1 | Achchuthan Shanmugasundram Classified gene: SYT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | SYT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.30 | SYT1 | Achchuthan Shanmugasundram Gene: syt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SYT1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SYT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SYT1 | Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, OMIM:618218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SQSTM1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SQSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SQSTM1 | Achchuthan Shanmugasundram Classified gene: SQSTM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SQSTM1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated families) available for promoting this gene to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.29 | SQSTM1 | Achchuthan Shanmugasundram Gene: sqstm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.28 | SQSTM1 | Achchuthan Shanmugasundram Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles , MIM#617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.27 | SQSTM1 | Achchuthan Shanmugasundram reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.27 | L2HGDH | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: L2HGDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.27 | L2HGDH | Achchuthan Shanmugasundram Classified gene: L2HGDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.27 | L2HGDH | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the condition and hence this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.27 | L2HGDH | Achchuthan Shanmugasundram Gene: l2hgdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.26 | L2HGDH | Achchuthan Shanmugasundram Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.25 | L2HGDH | Achchuthan Shanmugasundram Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 to L-2-hydroxyglutaric aciduria, OMIM:236792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.24 | L2HGDH | Achchuthan Shanmugasundram Publications for gene: L2HGDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.23 | L2HGDH | Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15824270, 18780161, 24753671; Phenotypes: L-2-hydroxyglutaric aciduria, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.23 | SLC30A9 | Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.23 | SLC30A9 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with childhood onset dystonia or choreoathetosis reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.23 | SLC30A9 | Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.22 | SLC30A9 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SLC30A9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.22 | SLC30A9 |
Achchuthan Shanmugasundram gene: SLC30A9 was added gene: SLC30A9 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A9 were set to 28334855; 34716203; 37041080 Phenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome, OMIM:617595 Review for gene: SLC30A9 was set to GREEN Added comment: PMID:28334855 - Six patients from a large multigenerational Bedouin kindred had onset of different combinations of intellectual disability, muscle weakness, oculomotor apraxia, and nephropathy in early childhood and they were identified with a homozygous variant in SLC30A9 gene (c.1047_1049delGCA; p.A350del). The age of onset of movement disorder was around 1-2 years of age. PMID:34716203 - A girl of African-American descent was identified with compound heterozygous variants in SLC30A9 gene (c.40delA & c.86_87dupCC) and was reported with a cerebrorenal syndrome. She presented around one year of age with microcephaly and global developmental delay. She also had bilateral sensorineural hearing loss and later developed dystonic movements affecting the whole body (onset was around 5-10 years of age). PMID:37041080 - Eight individuals from four unrelated families were reported with SLC30A9-related disease and they presented with intellectual disability and progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis despite phenotypic variability. The two families of British Pakistani descent harboured homozygous c.1253G>T (p.Gly418Val) variant, Egyptian Palestinian family harboured homozygous c.1049delCAG (pAla350del) variant, while family of European Australian descent had compound heterozygous variants (c.1083dup/ p.Val362Cysfs*5, and c.1413A>G/ p.Ser471=). The age of onset of movement disorder in these patients ranged from around 1-2 years to 16 years of age. This gene has been associated with relevant phenotypes in OMIM (MIM #617595), but not yet in Gene2Phenotype. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: TMEM151A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD. Hence, this gene can be rated Green in the next major update.; to: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD with onset in childhood/ adolescence. Hence, this gene can be rated Green in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TMEM151A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Classified gene: TMEM151A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD. Hence, this gene can be rated Green in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Gene: tmem151a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.20 | TMEM151A | Achchuthan Shanmugasundram Phenotypes for gene: TMEM151A were changed from Episodic kinesigenic dyskinesia 3 to Episodic kinesigenic dyskinesia 3, OMIM:620245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.19 | TMEM151A | Achchuthan Shanmugasundram Publications for gene: TMEM151A were set to 34518509; 34820915; 35587630; 35707035; 35727387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A |
Achchuthan Shanmugasundram changed review comment from: PMID:34518509 - Nine individuals from three unrelated Chines families with paroxysmal kinesigenic dyskinesia (PKD) were identified with autosomal dominant variants in TMEM151A gene. In addition, 8 unrelated patients (isolated cases) with sporadic occurrence of PKD were also identified with heterozygous variants, of which three patients inherited variants from an unaffected parent, suggesting incomplete penetrance. The age of onset of symptoms ranged between 9 and 15 years. In addition, supporting mouse model and in vitro functional assays suggested loss of function as the mechanism of disease. PMID:34820915 - 29 PRRT2-negative Chinese patients from 25 families with PKD identified with 24 heterozygous variants in TMEM151A gene. The mean age of onset of symptoms was 12.93 years, with 13 patients reported with spontaneous remission of the disease around 21 years of age. PMID:35587630 - De novo missense variant in TMEM151A was identified in a French man with PKD and he presented with brief attacks of dystonia after 16 years of age. PMID:35707035 - Screening of patients with PRRT2-negative PKD and other movement disorders identified two novel variants in TMEM151A gene in two patients with PKD. PMID:35727387 - Heterozygous missense variant was identified in four affected members of a 3-generation Chinese family with PKD and the variant segregated with the disorder in the family. This gene has been associated with relevant phenotype in OMIM (MIM #620245), but not in Gene2Phenotype.; to: PMID:34518509 - Nine individuals from three unrelated Chines families with paroxysmal kinesigenic dyskinesia (PKD) were identified with autosomal dominant variants in TMEM151A gene. In addition, 8 unrelated patients (isolated cases) with sporadic occurrence of PKD were also identified with heterozygous variants, of which three patients inherited variants from an unaffected parent, suggesting incomplete penetrance. The age of onset of symptoms ranged between 9 and 15 years. In addition, supporting mouse model and in vitro functional assays suggested loss of function as the mechanism of disease. PMID:34820915 - 29 PRRT2-negative Chinese patients from 25 families with PKD identified with 24 heterozygous variants in TMEM151A gene. The mean age of onset of symptoms was 12.93 years, with 13 patients reported with spontaneous remission of the disease around 21 years of age. PMID:35587630 - De novo missense variant in TMEM151A was identified in a French man with PKD and he presented with brief attacks of dystonia after 16 years of age. PMID:35707035 - Screening of patients with PRRT2-negative PKD and other movement disorders identified two novel variants in TMEM151A gene in two patients with PKD. PMID:35727387 - Heterozygous missense variant was identified in four affected members of a 3-generation Chinese family with PKD and the variant segregated with the disorder in the family. PMID:36724570 - Three patients presenting with PKD were identified with different TMEM151A variants. This gene has been associated with relevant phenotype in OMIM (MIM #620245), but not in Gene2Phenotype. |
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Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A | Achchuthan Shanmugasundram edited their review of gene: TMEM151A: Changed publications to: 34518509, 34820915, 35587630, 35707035, 35727387, 36724570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A | Achchuthan Shanmugasundram Publications for gene: TMEM151A were set to (PMID: 34518509; 35707035; 36724570; 34820915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A | Achchuthan Shanmugasundram reviewed gene: TMEM151A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34518509, 34820915, 35587630, 35707035, 35727387; Phenotypes: Episodic kinesigenic dyskinesia 3, OMIM:620245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A | Lucy Jackson edited their review of gene: TMEM151A: Changed publications to: 34518509, 35707035, 36724570, 34820915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A |
Lucy Jackson gene: TMEM151A was added gene: TMEM151A was added to Childhood onset dystonia, chorea or related movement disorder. Sources: NHS GMS Mode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM151A were set to (PMID: 34518509; 35707035; 36724570; 34820915) Phenotypes for gene: TMEM151A were set to Episodic kinesigenic dyskinesia 3 Review for gene: TMEM151A was set to GREEN Added comment: LOF variants have been shown to cause autosomal dominant Episodic kinesigenic dyskinesia 3 Sources: NHS GMS |
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Childhood onset dystonia, chorea or related movement disorder v3.17 | DNAJC6 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: DNAJC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.17 | DNAJC6 | Sarah Leigh Classified gene: DNAJC6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.17 | DNAJC6 | Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.16 | DNAJC6 | Sarah Leigh Classified gene: DNAJC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.16 | DNAJC6 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.16 | DNAJC6 | Sarah Leigh Gene: dnajc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.15 | DNAJC6 | Sarah Leigh Publications for gene: DNAJC6 were set to 34175496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.14 | DNAJC6 | Sarah Leigh Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.13 | DNAJC6 | Sarah Leigh reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.13 | TSPOAP1 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TSPOAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.13 | TSPOAP1 | Sarah Leigh Tag Q3_23_promote_green was removed from TSPOAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least TSPOAP1 three variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees. Motor symptoms were apparent between 11 and 13 years of age for NM_004758: c.2449_2450delinsTG, p.Gln817* and c.538delG, p.Ala180Profs*8, while NM_004758: c.5422G>A, p.Gly1808Ser was from 58 years through to the 60s. Similarly, cognitive impairment was apparent from school age and progressed to moderate to extensive, in the carries of the two terminating TSPOAP1 variants, while those with the missense variant were diagnosed with mild cognitive impairment (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324).; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least three TSPOAP1variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees. Motor symptoms were apparent between 11 and 13 years of age for NM_004758: c.2449_2450delinsTG, p.Gln817* and c.538delG, p.Ala180Profs*8, while NM_004758: c.5422G>A, p.Gly1808Ser was from 58 years through to the 60s. Similarly, cognitive impairment was apparent from school age and progressed to moderate to extensive, in the carries of the two terminating TSPOAP1 variants, while those with the missense variant were diagnosed with mild cognitive impairment (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least TSPOAP1 three variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324).; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least TSPOAP1 three variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees. Motor symptoms were apparent between 11 and 13 years of age for NM_004758: c.2449_2450delinsTG, p.Gln817* and c.538delG, p.Ala180Profs*8, while NM_004758: c.5422G>A, p.Gly1808Ser was from 58 years through to the 60s. Similarly, cognitive impairment was apparent from school age and progressed to moderate to extensive, in the carries of the two terminating TSPOAP1 variants, while those with the missense variant were diagnosed with mild cognitive impairment (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TSPOAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh edited their review of gene: TSPOAP1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least TSPOAP1 three variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh Classified gene: TSPOAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.12 | TSPOAP1 | Sarah Leigh Gene: tspoap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.11 | NUP54 |
Achchuthan Shanmugasundram changed review comment from: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)). The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature; to: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)). The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. Western blots showed reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts. This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v3.11 | NUP54 | Achchuthan Shanmugasundram Classified gene: NUP54 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.11 | NUP54 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for rating this gene as GREEN in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.11 | NUP54 | Achchuthan Shanmugasundram Gene: nup54 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.10 | NUP54 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: NUP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.10 | NUP54 |
Achchuthan Shanmugasundram gene: NUP54 was added gene: NUP54 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to Early-onset dystonia Review for gene: NUP54 was set to GREEN Added comment: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)). The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v3.9 | COASY | Sarah Leigh Publications for gene: COASY were set to 27021474; 24360804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.8 | ARFGEF3 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ARFGEF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.8 | ARFGEF3 | Achchuthan Shanmugasundram Classified gene: ARFGEF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.8 | ARFGEF3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases with monoallelic variants in this gene and with childhood-onset dystonia. Hence, this gene can be promoted to GREEN at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.8 | ARFGEF3 | Achchuthan Shanmugasundram Gene: arfgef3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.7 | ARFGEF3 | Achchuthan Shanmugasundram Phenotypes for gene: ARFGEF3 were changed from Dystonia to early-onset generalized dystonia, MONDO:0100016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.6 | ARFGEF3 | Achchuthan Shanmugasundram reviewed gene: ARFGEF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33098801; Phenotypes: early-onset generalized dystonia, MONDO:0100016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.6 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.5 | SUCLA2 | Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Dystonia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.4 | ECHS1 | Arina Puzriakova Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.3 | SPG7 | Sarah Leigh commented on gene: SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.3 | SPG7 | Sarah Leigh Mode of inheritance for gene: SPG7 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.2 | SPG7 | Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v3.0 | Catherine Snow promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.13 | Eleanor Williams List of related panels changed from Childhood onset dystonia; chorea or related movement disorder; Childhood onset dystonia or chorea or related movement disorder; R57 to Childhood onset dystonia or chorea or related movement disorder; R57 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.12 |
Sarah Leigh Panel name changed from Childhood onset dystonia or chorea or related movement disorder to Childhood onset dystonia, chorea or related movement disorder List of related panels changed from R57; Childhood onset dystonia; chorea or related movement disorder to Childhood onset dystonia; chorea or related movement disorder; Childhood onset dystonia or chorea or related movement disorder; R57 |
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Childhood onset dystonia, chorea or related movement disorder v2.11 | SPATA5L1 | Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.11 | CACNB4 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene was proposed to be changed to Both mono and biallelic in 2022 but since there is no new evidence since it was last considered by the GMS, it has been decided to keep it as just monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.11 | CACNB4 | Eleanor Williams Mode of inheritance for gene: CACNB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | TOR1A | Eleanor Williams Tag Q1_22_MOI was removed from gene: TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | TOR1A | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams Tag Q1_22_rating was removed from gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SNORD118 | Eleanor Williams Tag Q2_22_rating was removed from gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SNORD118 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | PNPT1 | Eleanor Williams Tag Q1_22_rating was removed from gene: PNPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | PNPT1 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | NDUFA12 | Eleanor Williams Tag Q3_22_rating was removed from gene: NDUFA12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | NDUFA12 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HSPD1 | Eleanor Williams Tag Q2_22_MOI was removed from gene: HSPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HSPD1 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HECW2 | Eleanor Williams Tag Q3_22_rating was removed from gene: HECW2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HECW2 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ATP5G3 | Eleanor Williams Tag Q3_22_rating was removed from gene: ATP5G3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ATP5G3 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | AP1S2 | Eleanor Williams Tag Q4_21_MOI was removed from gene: AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | AP1S2 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ACER3 | Eleanor Williams Tag Q1_22_rating was removed from gene: ACER3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ACER3 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | CACNB4 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | TOR1A | Eleanor Williams commented on gene: TOR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | SNORD118 | Eleanor Williams reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | PNPT1 | Eleanor Williams reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | NDUFA12 | Eleanor Williams reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HSPD1 | Eleanor Williams commented on gene: HSPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | HECW2 | Eleanor Williams reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | COL6A3 | Eleanor Williams commented on gene: COL6A3: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | CACNB4 | Eleanor Williams commented on gene: CACNB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ATP5G3 | Eleanor Williams reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | AP1S2 | Eleanor Williams commented on gene: AP1S2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.10 | ACER3 | Eleanor Williams reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.9 | FXN_GAA | Eleanor Williams reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.9 | FXN_GAA | Eleanor Williams Tag Q2_21_rating was removed from STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.9 | FXN_GAA | Eleanor Williams Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.9 | FXN_GAA | Eleanor Williams Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | TOR1A | Eleanor Williams Mode of inheritance for gene TOR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | SPATA5L1 |
Eleanor Williams Source Expert Review Green was added to SPATA5L1. Source NHS GMS was added to SPATA5L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | SNORD118 |
Eleanor Williams Source Expert Review Green was added to SNORD118. Source NHS GMS was added to SNORD118. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | PNPT1 |
Eleanor Williams Source Expert Review Green was added to PNPT1. Source NHS GMS was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | NDUFA12 |
Eleanor Williams Source Expert Review Green was added to NDUFA12. Source NHS GMS was added to NDUFA12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | HSPD1 | Eleanor Williams Mode of inheritance for gene HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | HECW2 |
Eleanor Williams Source Expert Review Green was added to HECW2. Source NHS GMS was added to HECW2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | COL6A3 | Eleanor Williams Mode of inheritance for gene COL6A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | CACNB4 |
Eleanor Williams Source NHS GMS was added to CACNB4. Mode of inheritance for gene CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | ATP5G3 |
Eleanor Williams Source Expert Review Green was added to ATP5G3. Source NHS GMS was added to ATP5G3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.8 | AP1S2 | Eleanor Williams Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | ACER3 |
Eleanor Williams Source Expert Review Green was added to ACER3. Source NHS GMS was added to ACER3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.7 | COX20 | Mafalda Gomes Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.7 | COX20 | Mafalda Gomes Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.7 | COX20 | Mafalda Gomes Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.6 | COX20 | Mafalda Gomes Publications for gene: COX20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.5 | COX20 | Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.5 | COX20 | Mafalda Gomes reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30656193, 33751098, 24202787; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.4 | COX20 |
Mafalda Gomes Source Expert Review Amber was added to COX20. Mode of inheritance for gene COX20 was changed from to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood onset dystonia, chorea or related movement disorder v2.3 | COX15 | Arina Puzriakova Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.2 | COX10 | Arina Puzriakova Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.265 | HNRNPH1 | Eleanor Williams commented on gene: HNRNPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.265 | HNRNPH1 | Eleanor Williams Phenotypes for gene: HNRNPH1 were changed from HNRNPH1-related neurodevelopmental disorder to HNRNPH1-related neurodevelopmental disorder; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.264 | HNRNPH1 | Eleanor Williams Tag gene-checked was removed from gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.264 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.263 | ADAR | Arina Puzriakova Tag Q4_22_MOI tag was added to gene: ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.263 | ADAR |
Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from biallelic only to both mono- and biallelic at the next GMS panel update. Dystonia is an established feature of AGS6 (MIM# 615010) associated with AR variants in this gene. Overall the AD condition (dyschromatosis symmetrica hereditaria, MIM# 127400) often presents with changes in skin pigmentation as the only sign of disease. However, there have also been reports of neurologic deficits including ID, developmental regression, brain calcification, seizures and dystonia in some affected individuals, particularly with the Gly1007Arg variant (PMID: 16225627; 16817193; 19017046). Although the penetrance of extracutaneous features is reduced, there is value in testing heterozygous ADAR variants on these panels to ensure syndromic cases are not missed if not tested in the context of the skin phenotype. |
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Childhood onset dystonia, chorea or related movement disorder v1.263 | ADAR | Arina Puzriakova Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.262 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010; dystonia to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.261 | AP1S2 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease). |
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Childhood onset dystonia, chorea or related movement disorder v1.261 | AFG3L2 | Eleanor Williams commented on gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.261 | AFG3L2 | Eleanor Williams Tag Q2_21_rating tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.261 | STUB1 | Sarah Leigh Added comment: Comment on mode of inheritance: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093. PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.261 | STUB1 | Sarah Leigh Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.260 | STUB1 | Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.259 | STUB1 | Sarah Leigh Publications for gene: STUB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.258 | DNAJC6 |
Dmitrijs Rots gene: DNAJC6 was added gene: DNAJC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC6 were set to 34175496 Review for gene: DNAJC6 was set to AMBER Added comment: Ray et al. in 34175496 summarized reported cases with DNAJC6 - 6/6 studies had childhood-onset movement disorder (mostly parkinsonism) and homozygous variant (nonsense, splice, frameshift and missense). Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.258 | XK | Sarah Leigh Classified gene: XK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.258 | XK | Sarah Leigh Added comment: Comment on list classification: Not appropriate for this panel, as older onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.258 | XK | Sarah Leigh Gene: xk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.257 | XK |
Sarah Leigh Tag Q3_22_rating was removed from gene: XK. Tag Q3_22_MOI was removed from gene: XK. |
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Childhood onset dystonia, chorea or related movement disorder v1.257 | XK | Sarah Leigh edited their review of gene: XK: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.257 | XK |
Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK would be predictive of possible future conditions.; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK could be predictive of possible future conditions. |
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Childhood onset dystonia, chorea or related movement disorder v1.257 | XK |
Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK would be predictive of possible future conditions. |
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Childhood onset dystonia, chorea or related movement disorder v1.257 | XK | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.257 | XK | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.257 | XK | Sarah Leigh Added comment: Comment on publications: 11761473;8004674;11032622;11261514;33652783;30128557;8619554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.257 | XK | Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674; 8619554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.256 | FASTKD2 | Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from Dystonia to Combined oxidative phosphorylation deficiency 44, OMIM:618855; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.255 | FASTKD2 | Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from Dystonia to Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.254 | FASTKD2 | Arina Puzriakova Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.253 | CLPB | Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.252 | TARS2 | Arina Puzriakova Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, OMIM:615918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.251 | NDUFA12 | Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from Leigh syndrome due to mitochondrial complex 1 deficiency 256000; ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.250 | NDUFA12 | Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.249 | NDUFA12 | Arina Puzriakova Classified gene: NDUFA12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.249 | NDUFA12 | Arina Puzriakova Gene: ndufa12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.248 | NDUFA12 | Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.248 | NDUFA12 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.248 | ATP5G3 | Arina Puzriakova Classified gene: ATP5G3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.248 | ATP5G3 | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene as Green at the next GMS panel update - at least four unrelated families with heterozygous variants primarily presenting with dystonia or related movement disorder (PMID: 34636445; 34954817); also supportive Drosophila model described. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.248 | ATP5G3 | Arina Puzriakova Gene: atp5g3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.247 | ATP5G3 | Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681 to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.246 | ATP5G3 |
Arina Puzriakova Tag new-gene-name tag was added to gene: ATP5G3. Tag Q3_22_rating tag was added to gene: ATP5G3. |
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Childhood onset dystonia, chorea or related movement disorder v1.246 | XK | Sarah Leigh Classified gene: XK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.246 | XK | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.246 | XK | Sarah Leigh Gene: xk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.245 | XK | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.245 | XK |
Sarah Leigh Tag Q3_22_rating tag was added to gene: XK. Tag Q3_22_MOI tag was added to gene: XK. |
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Childhood onset dystonia, chorea or related movement disorder v1.245 | XK | Sarah Leigh Classified gene: XK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.245 | XK | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.245 | XK | Sarah Leigh Gene: xk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.244 | XK | Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.243 | XK | Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8619554; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.243 | XK | Sarah Leigh Publications for gene: XK were set to 11761473; 30128557 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.242 | XK | Sarah Leigh Publications for gene: XK were set to 11761473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.241 | XK | Sarah Leigh Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease MIM#300842 to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.240 | HECW2 | Arina Puzriakova Classified gene: HECW2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.240 | HECW2 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update. Motor dysfunction is a key feature in majority of cases and of all individuals aged 5 years or older, only 7/12 could walk, although often with limited capacity. Therefore, inclusion of HECW2 on this panel could present potential diagnostic benefit. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.240 | HECW2 | Arina Puzriakova Gene: hecw2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.239 | HECW2 |
Arina Puzriakova gene: HECW2 was added gene: HECW2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Q3_22_rating tags were added to gene: HECW2. Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27389779; 27334371; 34321324 Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 Review for gene: HECW2 was set to GREEN Added comment: Acharya et al., 2022 (PMID: 34321324) released a review of 35 previously published and new unpublished cases harbouring HECW2 variants. Clinical characteristics in all individuals included ID/DD and hypotonia with or without spasticity. The review also highlighted motor coordination/movement deficits in 21/28 subjects (75%). Stereotypic movements were the most common (15) but dystonia (4) and chorea (3) are also reported. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.238 | MAL | Sarah Leigh reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.238 | MAL | Sarah Leigh Classified gene: MAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.238 | MAL | Sarah Leigh Gene: mal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | MAL |
Julia Baptista gene: MAL was added gene: MAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAL were set to 35217805 Phenotypes for gene: MAL were set to developmental delay; nystagmus; progressive motor deterioration; dysmyelination Review for gene: MAL was set to AMBER Added comment: Single consanguineous family reported with two affected children (DD and nystagmus). New onset ataxia and cerebellar volume loss with patchy dysmyelination. Homozygous missense variant identified by exome analysis segregated with the condition. Functional data suggested that p.(Ala109Asp) severely affects protein folding of MAL, leading to mislocalization in the ER. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.237 | GBA | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | SKIV2L | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | TTC37 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | TTC37 | Sarah Leigh Tag new-gene-name tag was added to gene: TTC37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | TTC37 | Sarah Leigh commented on gene: TTC37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | SKIV2L | Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | SKIV2L | Sarah Leigh commented on gene: SKIV2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | GBA | Sarah Leigh Tag new-gene-name tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | GBA | Sarah Leigh commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Eleanor Williams Tag gene-checked tag was added to gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | VPS4A | Arina Puzriakova Tag watchlist_moi tag was added to gene: VPS4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | VPS4A | Arina Puzriakova changed review comment from: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.; to: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date. Added 'watchlist_moi tag to allow monitoring for additional cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | CACNB4 | Eleanor Williams Tag for-review was removed from gene: CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | COL6A3 | Eleanor Williams Tag for-review was removed from gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | YIF1B | Eleanor Williams Tag for-review was removed from gene: YIF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Eleanor Williams Tag for-review was removed from gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | EIF2AK2 | Eleanor Williams Tag for-review was removed from gene: EIF2AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | NDUFA2 | Eleanor Williams Tag for-review was removed from gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | RNU7-1 | Eleanor Williams Tag for-review was removed from gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | VPS4A |
Eleanor Williams Tag for-review was removed from gene: VPS4A. Tag Q2_22_rating was removed from gene: VPS4A. |
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Childhood onset dystonia, chorea or related movement disorder v1.237 | CACNB4 | Sarah Leigh commented on gene: CACNB4: NHSGenomic Medicine Service consideration - limited evidence for biallelic mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | CACNB4 | Sarah Leigh commented on gene: CACNB4: After NHSGenomic Medicine Service consideration, the mode of inheritance of this gene has not been changed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | COL6A3 | Sarah Leigh commented on gene: COL6A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | YIF1B | Sarah Leigh commented on gene: YIF1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Sarah Leigh commented on gene: HNRNPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | EIF2AK2 | Sarah Leigh commented on gene: EIF2AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | NDUFA2 | Sarah Leigh commented on gene: NDUFA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | RNU7-1 | Sarah Leigh commented on gene: RNU7-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | VPS4A | Sarah Leigh commented on gene: VPS4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.236 | COL6A3 |
Eleanor Williams Source Expert Review Amber was added to COL6A3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | YIF1B |
Eleanor Williams Source Expert Review Green was added to YIF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | HNRNPH1 |
Eleanor Williams Source Expert Review Green was added to HNRNPH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | EIF2AK2 |
Eleanor Williams Source Expert Review Green was added to EIF2AK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | NDUFA2 |
Eleanor Williams Source Expert Review Green was added to NDUFA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | RNU7-1 |
Eleanor Williams Source Expert Review Green was added to RNU7-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.236 | VPS4A |
Eleanor Williams Source Expert Review Green was added to VPS4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.235 | VPS4A | Sarah Leigh Tag Q2_22_rating tag was added to gene: VPS4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.235 | SNORD118 | Sarah Leigh edited their review of gene: SNORD118: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. Numervous variants have been reported in cases with Leukoencephalopathy, brain calcifications, and cysts (OMIM:614561), which include features of motor involvement (PMID: 33029936).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.235 | SNORD118 | Sarah Leigh Publications for gene: SNORD118 were set to 27571260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.234 | SNORD118 |
Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. Tag Q2_22_rating tag was added to gene: SNORD118. |
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Childhood onset dystonia, chorea or related movement disorder v1.234 | SNORD118 | Sarah Leigh Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy, brain calcifications, and cysts MIM#614561 to Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.233 | SNORD118 | Sarah Leigh Classified gene: SNORD118 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.233 | SNORD118 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.233 | SNORD118 | Sarah Leigh Gene: snord118 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | TAZ | Arina Puzriakova commented on gene: TAZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | TAZ | Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | YIF1B | Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | CAMK4 | Eleanor Williams Tag gene-checked tag was added to gene: CAMK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | RNU7-1 | Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.232 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 to Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.231 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive 614487; Spinocerebellar ataxia 28 610246 to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.230 | HSPD1 | Arina Puzriakova Publications for gene: HSPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.229 | HSPD1 | Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.228 | HSPD1 | Arina Puzriakova Tag Q2_22_MOI tag was added to gene: HSPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.228 | HSPD1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. Biallelic variants cause a paediatric-onset leukodystrophy (MIM# 612233) which features motor disability associated progressive limb spasticity and contractures, and some patients have been found to have choreoatetotic movements (PMID: 18571143, 27405012). On the other hand, monoallelic variants are associated with a pure adult-onset HSP (SPG13, MIM# 605280) which is not pertinent to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.228 | HSPD1 | Arina Puzriakova Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.227 | C19orf12 | Sarah Leigh Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4, 614298; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.226 | C19orf12 | Sarah Leigh Publications for gene: C19orf12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.225 | PNPT1 | Arina Puzriakova edited their review of gene: PNPT1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.225 | PNPT1 | Arina Puzriakova Publications for gene: PNPT1 were set to 23084291; 33199448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.224 | PNPT1 | Arina Puzriakova Classified gene: PNPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.224 | PNPT1 | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there are sufficient unrelated cases to rate this gene as Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.224 | PNPT1 | Arina Puzriakova Gene: pnpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.223 | PNPT1 | Arina Puzriakova Publications for gene: PNPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.222 | PNPT1 | Arina Puzriakova Tag Q1_22_rating tag was added to gene: PNPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.222 | PNPT1 | Arina Puzriakova reviewed gene: PNPT1: Rating: ; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.222 | PNPT1 | Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, 614932 to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.221 | ZNF423 | Arina Puzriakova Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19; Nephronophthisis 14; Nephronophthisis 14, 614844; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.220 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 to Dystonia-1, torsion, OMIM:128100; Arthrogryposis multiplex congenita 5, OMIM:618947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.219 | TOR1A | Arina Puzriakova Publications for gene: TOR1A were set to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.218 | TOR1A | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.218 | TOR1A | Arina Puzriakova reviewed gene: TOR1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-1, torsion, OMIM:128100, Arthrogryposis multiplex congenita 5, OMIM:618947; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.218 | ACER3 | Arina Puzriakova Entity copied from White matter disorders and cerebral calcification - narrow panel v1.227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.218 | ACER3 |
Arina Puzriakova gene: ACER3 was added gene: ACER3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,Literature Q1_22_rating tags were added to gene: ACER3. Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 26792856; 32816236; 34281620 Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762 |
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Childhood onset dystonia, chorea or related movement disorder v1.217 | AFG3L2 | Sarah Leigh commented on gene: AFG3L2: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | AFG3L2 | Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | TBP_CAG | Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | CSTB_CCCCGCCCCGCG | Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | C9orf72_GGGGCC | Eleanor Williams commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | ATXN2_CAG | Ivone Leong commented on STR: ATXN2_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | VPS41 | Sarah Leigh commented on gene: VPS41: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | VPS16 | Sarah Leigh commented on gene: VPS16: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | UBTF | Sarah Leigh commented on gene: UBTF: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | TARS2 | Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | SLC16A2 | Sarah Leigh commented on gene: SLC16A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | SCN1A | Sarah Leigh commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | MED27 | Sarah Leigh commented on gene: MED27: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | IRF2BPL | Sarah Leigh commented on gene: IRF2BPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | IMPDH2 | Sarah Leigh commented on gene: IMPDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | HPRT1 | Sarah Leigh commented on gene: HPRT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | GRIN1 | Sarah Leigh commented on gene: GRIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | GNB1 | Sarah Leigh commented on gene: GNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | GLRB | Sarah Leigh commented on gene: GLRB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | FUCA1 | Sarah Leigh commented on gene: FUCA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | FOXG1 | Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | FITM2 | Sarah Leigh commented on gene: FITM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | DHDDS | Sarah Leigh commented on gene: DHDDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | CSTB | Sarah Leigh commented on gene: CSTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | CLPB | Sarah Leigh commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | CAMK4 | Sarah Leigh commented on gene: CAMK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | C9orf72 | Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | ALDH18A1 | Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.213 | TBP_CAG | Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.213 | FXN_GAA | Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.213 | CSTB_CCCCGCCCCGCG |
Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. |
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Childhood onset dystonia, chorea or related movement disorder v1.213 | C9orf72_GGGGCC |
Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. |
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Childhood onset dystonia, chorea or related movement disorder v1.213 | ATXN2_CAG |
Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG. |
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Childhood onset dystonia, chorea or related movement disorder v1.212 | HPRT1 |
Sarah Leigh Tag Q4_21_expert_review was removed from gene: HPRT1. Tag Q4_21_rating was removed from gene: HPRT1. |
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Childhood onset dystonia, chorea or related movement disorder v1.212 | DHDDS | Sarah Leigh Tag Q4_21_rating was removed from gene: DHDDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | ALDH18A1 |
Sarah Leigh Tag Q2_21_phenotype was removed from gene: ALDH18A1. Tag Q2_21_expert_review was removed from gene: ALDH18A1. |
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Childhood onset dystonia, chorea or related movement disorder v1.212 | C9orf72 |
Sarah Leigh Tag Q4_21_MOI was removed from gene: C9orf72. Tag Q4_21_rating was removed from gene: C9orf72. Tag Q4_21_NHS_review was removed from gene: C9orf72. |
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Childhood onset dystonia, chorea or related movement disorder v1.212 | CAMK4 | Sarah Leigh Tag Q3_21_rating was removed from gene: CAMK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CLPB | Sarah Leigh Tag Q4_21_MOI was removed from gene: CLPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CSTB |
Sarah Leigh Tag Q2_21_phenotype was removed from gene: CSTB. Tag Q2_21_expert_review was removed from gene: CSTB. |
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Childhood onset dystonia, chorea or related movement disorder v1.212 | FITM2 | Sarah Leigh Tag Q2_21_rating was removed from gene: FITM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | FOXG1 | Sarah Leigh Tag Q2_21_rating was removed from gene: FOXG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | FUCA1 | Sarah Leigh Tag Q2_21_rating was removed from gene: FUCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GLRB | Sarah Leigh Tag Q2_21_rating was removed from gene: GLRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GNB1 | Sarah Leigh Tag Q3_21_rating was removed from gene: GNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GRIN1 | Sarah Leigh Tag Q3_21_rating was removed from gene: GRIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | IMPDH2 | Sarah Leigh Tag Q3_21_rating was removed from gene: IMPDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | IRF2BPL | Sarah Leigh Tag Q2_21_rating was removed from gene: IRF2BPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | MED27 | Sarah Leigh Tag Q2_21_rating was removed from gene: MED27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | SCN1A | Sarah Leigh Tag Q2_21_phenotype was removed from gene: SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | SLC16A2 | Sarah Leigh Tag Q3_21_rating was removed from gene: SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | TARS2 | Sarah Leigh Tag Q4_21_rating was removed from gene: TARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | UBTF | Sarah Leigh Tag Q2_21_rating was removed from gene: UBTF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | VPS16 | Sarah Leigh Tag Q2_21_rating was removed from gene: VPS16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | VPS41 | Sarah Leigh Tag Q2_21_rating was removed from gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | VPS41 | Sarah Leigh commented on gene: VPS41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | VPS16 | Sarah Leigh commented on gene: VPS16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | UBTF | Sarah Leigh commented on gene: UBTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | TARS2 | Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | SLC16A2 | Sarah Leigh commented on gene: SLC16A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | SCN1A | Sarah Leigh commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | MED27 | Sarah Leigh commented on gene: MED27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | IRF2BPL | Sarah Leigh commented on gene: IRF2BPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | IMPDH2 | Sarah Leigh commented on gene: IMPDH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | HPRT1 | Sarah Leigh commented on gene: HPRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GRIN1 | Sarah Leigh commented on gene: GRIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GNB1 | Sarah Leigh commented on gene: GNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | GLRB | Sarah Leigh commented on gene: GLRB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | FUCA1 | Sarah Leigh commented on gene: FUCA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | FOXG1 | Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | FITM2 | Sarah Leigh commented on gene: FITM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | DHDDS | Sarah Leigh commented on gene: DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CSTB | Sarah Leigh commented on gene: CSTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CLPB | Sarah Leigh commented on gene: CLPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CAMK4 | Sarah Leigh commented on gene: CAMK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | C9orf72 | Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | ALDH18A1 | Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.211 | VPS41 |
Sarah Leigh Source Expert Review Green was added to VPS41. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | VPS16 |
Sarah Leigh Source Expert Review Green was added to VPS16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | UBTF |
Sarah Leigh Source Expert Review Green was added to UBTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | TARS2 |
Sarah Leigh Source Expert Review Green was added to TARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | SLC16A2 |
Sarah Leigh Source Expert Review Green was added to SLC16A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | SCN1A |
Sarah Leigh Source Expert Review Green was added to SCN1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | MED27 |
Sarah Leigh Source Expert Review Green was added to MED27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | IRF2BPL |
Sarah Leigh Source Expert Review Green was added to IRF2BPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | IMPDH2 |
Sarah Leigh Source Expert Review Green was added to IMPDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | HPRT1 |
Sarah Leigh Source Expert Review Green was added to HPRT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | GRIN1 |
Sarah Leigh Source Expert Review Green was added to GRIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | GNB1 |
Sarah Leigh Source Expert Review Green was added to GNB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | GLRB |
Sarah Leigh Source Expert Review Green was added to GLRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | FUCA1 |
Sarah Leigh Source Expert Review Green was added to FUCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | FOXG1 |
Sarah Leigh Source Expert Review Green was added to FOXG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | FITM2 |
Sarah Leigh Source Expert Review Green was added to FITM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | DHDDS |
Sarah Leigh Source Expert Review Green was added to DHDDS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | CLPB |
Sarah Leigh Source NHS GMS was added to CLPB. Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | CAMK4 |
Sarah Leigh Source Expert Review Green was added to CAMK4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.211 | C9orf72 |
Sarah Leigh Source Expert Review Red was added to C9orf72. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.210 | ATP5G3 |
Zornitza Stark gene: ATP5G3 was added gene: ATP5G3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP5G3 were set to 34636445; 34954817 Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681 Review for gene: ATP5G3 was set to GREEN Added comment: Note that HGNC approved gene name is ATP5MC3. PMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity. PMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.210 | SPATA5L1 | Ivone Leong Entity copied from Intellectual disability v3.1495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.210 | SPATA5L1 |
Ivone Leong gene: SPATA5L1 was added gene: SPATA5L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPATA5L1. Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 |
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Childhood onset dystonia, chorea or related movement disorder v1.209 | TARS2 | Sarah Leigh Tag Q4_21_rating tag was added to gene: TARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.209 | TARS2 | Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.209 | TARS2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.209 | TARS2 | Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.208 | TARS2 | Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.208 | TARS2 | Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.207 | TARS2 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Supportive functional studies were also presented PMID: 34508595.; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment. At least three unrelated cases of dystonia reported. Supportive functional studies were also presented PMID: 34508595. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.207 | TARS2 | Sarah Leigh Publications for gene: TARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.206 | TARS2 | Sarah Leigh Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.205 | TARS2 | Sarah Leigh reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.205 | C9orf72 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: C9orf72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.205 | SLC30A10 | Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 to Hypermanganesemia with dystonia 1, OMIM:613280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.204 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 to Aicardi-Goutieres syndrome 2, OMIM:610181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.203 | IFIH1 | Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 615846 to Aicardi-Goutieres syndrome 7, OMIM:615846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.202 | EXOSC3 | Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, OMIM:614678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.201 | HPRT1 |
Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: HPRT1. Tag Q4_21_rating tag was added to gene: HPRT1. |
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Childhood onset dystonia, chorea or related movement disorder v1.201 | HPRT1 | Arina Puzriakova commented on gene: HPRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.201 | HPRT1 | Arina Puzriakova Publications for gene: HPRT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.200 | HPRT1 | Arina Puzriakova Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322 to Lesch-Nyhan syndrome, OMIM:300322; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.199 | CLPB | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.199 | CLPB | Arina Puzriakova Publications for gene: CLPB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.198 | CLPB |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update. Association between biallelic variants and disease is well established, with at least 7 affected individuals reported with a movement disorder. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease. Three individuals were nonambulatory and one was ambulatory but with a wide based gait and not able to run or jump. Some functional studies of heterozygous variants were performed. |
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Childhood onset dystonia, chorea or related movement disorder v1.198 | CLPB | Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.197 | CLPB | Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.196 | FXN | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.196 | NOP56 | Arina Puzriakova Classified gene: NOP56 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.196 | NOP56 | Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.196 | NOP56 | Arina Puzriakova Gene: nop56 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.195 | NOP56 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.195 | NOP56 | Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.194 | NOP56 | Arina Puzriakova Phenotypes for gene: NOP56 were changed from Spinocerebellar ataxia 36, 614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.193 | NOP56 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56. |
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Childhood onset dystonia, chorea or related movement disorder v1.193 | PPP2R2B | Arina Puzriakova Phenotypes for gene: PPP2R2B were changed from Spinocerebellar ataxia 12, 604326 to Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.192 | PPP2R2B | Arina Puzriakova Classified gene: PPP2R2B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.192 | PPP2R2B | Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.192 | PPP2R2B | Arina Puzriakova Gene: ppp2r2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.191 | PPP2R2B | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.191 | PPP2R2B | Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.190 | PPP2R2B |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B. |
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Childhood onset dystonia, chorea or related movement disorder v1.190 | TBP_CAG | Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17, 607136 to Spinocerebellar ataxia 17, OMIM:607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.189 | HTT | Arina Puzriakova Publications for gene: HTT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.188 | HTT | Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic SNVs have been reported for Lopes-Maciel-Rodan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.188 | HTT | Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.187 | HTT | Arina Puzriakova Classified gene: HTT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.187 | HTT | Arina Puzriakova Gene: htt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.186 | HTT | Arina Puzriakova reviewed gene: HTT: Rating: ; Mode of pathogenicity: None; Publications: 26740508, 27329733, 33432339; Phenotypes: Lopes-Maciel-Rodan syndrome, OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.186 | HTT | Arina Puzriakova Tag watchlist tag was added to gene: HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.186 | HTT | Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Lopes-Maciel-Rodan syndrome, OMIM:617435; LOMARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.185 | ATXN1 | Arina Puzriakova Mode of pathogenicity for gene: ATXN1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.184 | ATXN1 | Arina Puzriakova Phenotypes for gene: ATXN1 were changed from Spinocerebellar ataxia 1, 164400 to Spinocerebellar ataxia 1, OMIM:164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.183 | DMPK | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.183 | DMPK | Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.182 | CSTB | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.182 | CSTB | Arina Puzriakova reviewed gene: CSTB: Rating: ; Mode of pathogenicity: None; Publications: 26843564; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.182 | CSTB_CCCCGCCCCGCG | Arina Puzriakova Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.181 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 to Episodic ataxia, type 2, OMIM:108500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.180 | C9orf72_GGGGCC | Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.179 | C9orf72 | Arina Puzriakova commented on gene: C9orf72 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.179 | C9orf72 | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: C9orf72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.179 | C9orf72 |
Arina Puzriakova Tag Q2_21_phenotype was removed from gene: C9orf72. Tag Q2_21_expert_review was removed from gene: C9orf72. Tag Q4_21_rating tag was added to gene: C9orf72. |
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Childhood onset dystonia, chorea or related movement disorder v1.179 | C9orf72 | Arina Puzriakova Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.178 | ATXN7 | Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia 7, 164500 to Spinocerebellar ataxia 7, OMIM:164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.177 | ATXN1 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. Tag currently-ngs-unreportable tag was added to gene: ATXN1. |
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Childhood onset dystonia, chorea or related movement disorder v1.177 | ATXN1 | Arina Puzriakova Classified gene: ATXN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.177 | ATXN1 | Arina Puzriakova Gene: atxn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.176 | ATXN1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.176 | ATXN1 | Arina Puzriakova Mode of inheritance for gene: ATXN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.175 | ATXN7 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.175 | ATXN7 | Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.174 | ATXN7 | Arina Puzriakova Classified gene: ATXN7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.174 | ATXN7 | Arina Puzriakova Gene: atxn7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.173 | ATXN7 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7. |
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Childhood onset dystonia, chorea or related movement disorder v1.173 | ATXN2_CAG | Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2, 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.172 | ATXN10 | Arina Puzriakova Mode of pathogenicity for gene: ATXN10 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.171 | ATXN10 | Arina Puzriakova Classified gene: ATXN10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.171 | ATXN10 | Arina Puzriakova Gene: atxn10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.170 | ATXN10 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN10. Tag currently-ngs-unreportable tag was added to gene: ATXN10. |
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Childhood onset dystonia, chorea or related movement disorder v1.170 | ATXN10 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.170 | ATXN10 | Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.169 | ATXN10 | Arina Puzriakova Phenotypes for gene: ATXN10 were changed from Spinocerebellar ataxia 10, 603516 to Spinocerebellar ataxia 10, OMIM:603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.168 | ATN1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.168 | ATN1 | Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.167 | ATN1 | Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy, 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.166 | ATN1 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATN1. Tag currently-ngs-unreportable tag was added to gene: ATN1. |
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Childhood onset dystonia, chorea or related movement disorder v1.166 | DHDDS | Arina Puzriakova Classified gene: DHDDS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.166 | DHDDS | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.166 | DHDDS | Arina Puzriakova Gene: dhdds has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.165 | DHDDS | Arina Puzriakova Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, OMIM:617836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.164 | DHDDS | Arina Puzriakova Publications for gene: DHDDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.163 | DHDDS | Arina Puzriakova Mode of inheritance for gene: DHDDS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.162 | DHDDS | Arina Puzriakova Tag Q4_21_rating tag was added to gene: DHDDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.162 | DHDDS | Arina Puzriakova reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 32654954, 33798445, 34182312, 34382076, 34504728; Phenotypes: Developmental delay and seizures with or without movement abnormalities, OMIM:617836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.162 | COL6A3 | Arina Puzriakova Publications for gene: COL6A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.161 | COL6A3 | Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Dystonia 27, 616411 to Dystonia 27, OMIM:616411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.160 | AP1S2 | Arina Puzriakova Publications for gene: AP1S2 were set to 23756445; 17617514; 18428203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.159 | AP1S2 | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.159 | AP1S2 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline. |
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Childhood onset dystonia, chorea or related movement disorder v1.159 | AP1S2 | Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.158 | AP1S2 | Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.157 | SHQ1 |
Zornitza Stark gene: SHQ1 was added gene: SHQ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHQ1 were set to 34542157; 29178645 Phenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration 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. Functional data in PMID 34542157 Rated Amber as phenotypes likely represent a continuum but currently unclear. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.157 | EIF2AK2 | Arina Puzriakova Tag missense tag was added to gene: EIF2AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.157 | EIF2AK2 | Arina Puzriakova edited their review of gene: EIF2AK2: Added comment: A further 6 families reported (PMID:33236446; 33866603) harbouring 3 different variants in this gene (including the first homozygous case). Clinical presentation was prominent in all cases for dystonia with onset in infancy or childhood, with subsequent generalisation. Additional clinical details are limited for the family described in PMID:33866603. However, in the remaining families detailed in PMID:33236446, 3 unrelated individuals additionally developed mild ID, spasticity, and brain MRI alterations; while the other 2 families (6 individuals) only had isolated dystonia.; Changed publications to: 32197074, 33236446, 33866603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.157 | EIF2AK2 | Arina Puzriakova Publications for gene: EIF2AK2 were set to 32197074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.156 | ATXN7 | Dmitrijs Rots reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.156 | ATXN1 | Dmitrijs Rots reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.156 | IMPDH2 | Arina Puzriakova Publications for gene: IMPDH2 were set to 33098801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.155 | IMPDH2 | Arina Puzriakova Classified gene: IMPDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.155 | IMPDH2 | Arina Puzriakova Added comment: Comment on list classification: This gene is not yet associated with a relevant phenotype in OMIM or G2P, but there are sufficient unrelated cases (3) presenting with signs of dystonia to rate as Green at the next GMS review. Other cases reported with motor dysfunction, and it is plausible that this may develop into dystonia later in life. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.155 | IMPDH2 | Arina Puzriakova Gene: impdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.154 | IMPDH2 | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.154 | IMPDH2 | Arina Puzriakova edited their review of gene: IMPDH2: Added comment: Kuukasjärvi et al., 2021 (PMID: 34305140) report on an additional large Finnish family (6 affected members) with a heterozygous truncating variant co-segregating with a dominantly inherited dystonia-tremor phenotype. Patient fibroblasts showed reduced IMPDH2 expression. IMPDH2 is the rate-limiting enzyme in the biosynthesis of guanine nucleotides, a dopamine synthetic pathway previously linked to childhood or adolescence-onset dystonia disorders.; Changed publications to: 33098801, 34305140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.154 | IMPDH2 | Arina Puzriakova Entity copied from Intellectual disability v3.1300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.154 | IMPDH2 |
Arina Puzriakova gene: IMPDH2 was added gene: IMPDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: IMPDH2. Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IMPDH2 were set to 33098801 Phenotypes for gene: IMPDH2 were set to Neurodevelopmental disorder with dystonia |
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Childhood onset dystonia, chorea or related movement disorder v1.153 | CAMK4 | Arina Puzriakova Entity copied from Intellectual disability v3.1289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.153 | CAMK4 |
Arina Puzriakova gene: CAMK4 was added gene: CAMK4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Other,Expert Review Amber,Literature Q3_21_rating tags were added to gene: CAMK4. Mode of inheritance for gene: CAMK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK4 were set to 30262571; 33098801; 33211350 Phenotypes for gene: CAMK4 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality; Abnormality of movement; Dystonia; Ataxia; Chorea; Myoclonus Penetrance for gene: CAMK4 were set to Complete Mode of pathogenicity for gene: CAMK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Childhood onset dystonia, chorea or related movement disorder v1.152 | GNB1 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.152 | GNB1 | Sarah Leigh Mode of pathogenicity for gene: GNB1 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.151 | GRIN1 | Sarah Leigh edited their review of gene: GRIN1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen, although there is a confirmed association with epileptic encephalopathy in Gen2Phen. At least 20 variants have been associated with Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 and three have been associated with Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.151 | GRIN1 | Sarah Leigh Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.150 | GRIN1 | Sarah Leigh Tag Q3_21_rating tag was added to gene: GRIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.150 | GRIN1 | Sarah Leigh Classified gene: GRIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.150 | GRIN1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.150 | GRIN1 | Sarah Leigh Gene: grin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.149 | GRIN1 | Sarah Leigh Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.148 | GNB1 | Sarah Leigh Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, MIM# 616973 to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.147 | GNB1 | Sarah Leigh Tag Q3_21_rating tag was added to gene: GNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.147 | GNB1 | Sarah Leigh edited their review of gene: GNB1: Added comment: Hemati et al (2018)(PMID: 30194818) reviewed 46 pathognic GNB1 variants in cases with Mental retardation, autosomal dominant 42 (OMIM:616973). They reported early hypotonia leading to hypertonia and spasticity in >75% of cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.147 | GNB1 | Sarah Leigh Classified gene: GNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.147 | GNB1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.147 | GNB1 | Sarah Leigh Gene: gnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.146 | SLC16A2 | Arina Puzriakova Classified gene: SLC16A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.146 | SLC16A2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.146 | SLC16A2 | Arina Puzriakova Gene: slc16a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.145 | SLC16A2 | Arina Puzriakova Publications for gene: SLC16A2 were set to 31410843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.144 | SLC16A2 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.144 | SLC16A2 | Arina Puzriakova reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20713192, 22805248, 23419639, 24170966, 25160547, 25755011, 25900139, 27212794, 31410843; Phenotypes: Allan-Herndon-Dudley syndrome, OMIM:300523; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.144 | SLC16A2 | Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, MIM# 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.143 | C12orf65 | Arina Puzriakova Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.142 | SERAC1 | Arina Puzriakova Phenotypes for gene: SERAC1 were changed from Lesions in the basal ganglia; MEGDEL syndrome; MEGDHEL syndrome; Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.141 | KIF1C | Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.140 | ARFGEF3 |
Zornitza Stark gene: ARFGEF3 was added gene: ARFGEF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARFGEF3 were set to 33098801 Phenotypes for gene: ARFGEF3 were set to Dystonia Review for gene: ARFGEF3 was set to GREEN gene: ARFGEF3 was marked as current diagnostic Added comment: 3 unrelated individuals reported with variants in this gene and dystonia: 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 |
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Childhood onset dystonia, chorea or related movement disorder v1.140 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from Dystonia; spastic paraplegia; intellectual disability to NESCAV syndrome, OMIM:614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Classified gene: KIF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Added comment: Comment on list classification: Dystonia can be feature of NESCAV syndrome (MIM# 614255) caused by heterozygous variants in this gene. However, KIF1A is associated with multiple phenotypes that do not include dystonia, and even NESCAV syndrome is more likely to be investigated in the context of other more prominent features such as spasticity and intellectual disability, for which this gene is already Green. For this reason, classifying as Amber on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Gene: kif1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.138 |
Ivone Leong List of related panels changed from R57 to R57; Childhood onset dystonia; chorea or related movement disorder Panel version 1.137 has been signed off on 2021-08-05 |
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Childhood onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC |
Sarah Leigh Tag Q2_21_rating was removed from STR: C9orf72_GGGGCC. Tag STR tag was added to STR: C9orf72_GGGGCC. |
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Childhood onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC | Sarah Leigh Tag STR was removed from STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC | Sarah Leigh Classified STR: C9orf72_GGGGCC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC | Sarah Leigh Added comment: Comment on list classification: Reviews for C9orf72 gene on this panel from Zornitza Stark (Australian Genomics), James Polke (North Thames GLH) & Helen Brittain (Genomics England Clinical Fellow)(https://panelapp.genomicsengland.co.uk/panels/847/gene/C9orf72/#!review), together recommend a Red rating, as the phenotype associated with this variant in this gene has an adult onset and is therefore not appropriate for a childhood gene panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC | Sarah Leigh Str: c9orf72_ggggcc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.136 | C9orf72 | Sarah Leigh edited their review of gene: C9orf72: Added comment: Helen Brittain (Genomics England Clinical Fellow) suggested a Red rating, as the phenotype associated with variants in this gene has an adult onset and therefore is not appropriate for a childhood gene panel.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.136 | AFG3L2 |
Sarah Leigh changed review comment from: The review by Zornitza Stark (5 Sep 2020), has raised concerns about the relevance of the phenotypes associated with variants in AFG3L2 to scope of this panel. Helen Brittain (Genomics England Clinical Fellow) has suggested this gene should be rated Amber on Childhood onset dystonia or chorea or related movement disorder panel. AFG3L2 is already Green on Ataxia and cerebellar anomalies - narrow (https://panelapp.genomicsengland.co.uk/panels/477/gene/AFG3L2) and Hereditary ataxia - adult onset (https://panelapp.genomicsengland.co.uk/panels/466/gene/AFG3L2) panels.; to: The review by Emily Jones (9 Jul 2019) and Zornitza Stark (5 Sep 2020), have raised concerns about the relevance of the phenotypes associated with variants in AFG3L2 to scope of this panel. Helen Brittain (Genomics England Clinical Fellow) has suggested this gene should be rated Amber on Childhood onset dystonia or chorea or related movement disorder panel. AFG3L2 is already Green on Ataxia and cerebellar anomalies - narrow (https://panelapp.genomicsengland.co.uk/panels/477/gene/AFG3L2) and Hereditary ataxia - adult onset (https://panelapp.genomicsengland.co.uk/panels/466/gene/AFG3L2) panels. |
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Childhood onset dystonia, chorea or related movement disorder v1.136 | AFG3L2 | Sarah Leigh reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.136 | FXN | Sarah Leigh reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.136 | DMPK | Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Demoted from Amber to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.136 | DMPK |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK. |
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Childhood onset dystonia, chorea or related movement disorder v1.136 | DMPK | Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 16090 to Myotonic dystrophy 1, OMIM:160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.135 | DMPK | Arina Puzriakova Classified gene: DMPK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.135 | DMPK | Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.135 | DMPK | Arina Puzriakova Gene: dmpk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.134 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.133 | ACOX1 | Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, 264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.132 | DMPK | Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.132 | DMPK | Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.132 | FXN_GAA | Sarah Leigh Publications for STR: FXN_GAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.131 | ALDH18A1 | Sarah Leigh changed review comment from: Based on review by Zornitza Stark and opinion of Helen Brittain (Genomics England Clinical Fellow), the Q2_21_phenotype & Q2_21_expert_review tags have been added, in order to request the opinion of the TEWG regarding the relevance of phenotype associated with variants in ALDH18A1 for this panel (Childhood onset dystonia or chorea or related movement disorder).; to: Based on review by Zornitza Stark and the opinion of Helen Brittain (Genomics England Clinical Fellow), the Q2_21_phenotype & Q2_21_expert_review tags have been added, in order to request the opinion of the TEWG regarding the relevance of phenotype associated with variants in ALDH18A1 for this panel (Childhood onset dystonia or chorea or related movement disorder). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.131 | ALDH18A1 | Sarah Leigh commented on gene: ALDH18A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.131 | ALDH18A1 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: ALDH18A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.131 | SCN8A | Arina Puzriakova Phenotypes for gene: SCN8A were changed from paroxysmal kinesigenic dyskinesias; epilepsy, Seizures, benign familial infantile, 5, 617080 to Seizures, benign familial infantile, 5, OMIM:617080; Paroxysmal kinesigenic dyskinesias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.130 | VPS41 | Arina Puzriakova Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Dystonia; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.129 | VPS41 | Arina Puzriakova Publications for gene: VPS41 were set to 32808683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.128 | VPS41 | Arina Puzriakova Classified gene: VPS41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.128 | VPS41 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GSM panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.128 | VPS41 | Arina Puzriakova Gene: vps41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.127 | VPS41 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.127 | VPS41 | Arina Puzriakova reviewed gene: VPS41: Rating: GREEN; Mode of pathogenicity: None; Publications: 32808683, 33764426, 33851776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.127 | VPS16 | Arina Puzriakova Penetrance for gene VPS16 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova commented on gene: VPS16: Penetrance for gene VPS16 was set from None to Incomplete - some variants transmitted from an unaffected parent and heterozygous LoF variants are observed in presumably healthy individuals in gnomAD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | EIF2AK2 | Zornitza Stark reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33236446, 33866603; Phenotypes: Early onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova edited their review of gene: VPS16: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: VPS16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova Classified gene: VPS16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 19 unrelated families reported with progressive dystonia (both multifocal and generalised types described) in association with variants in this gene (publications updated with relevant literature). Variable age of onset ranging from 3 to 50 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.126 | VPS16 | Arina Puzriakova Gene: vps16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.125 | VPS16 |
Arina Puzriakova Added comment: Comment on mode of inheritance: While most cases of VPS16-related dystonia have been due to heterozygous variants, one Chinese consanguineous family with dystonia has been found to harbour a homozygous missense variant (PMID:27174565). In view of only one biallelic case, MOI has been set as 'Monoallelic' - patients with biallelic variants would still be picked up by the Genomics England pipeline. Furthermore, biallelic VPS16 variants have been linked to a mucopolysaccharidosis‐like disease - reviewed on the 'Lysosomal storage disorder' (R276) panel. |
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Childhood onset dystonia, chorea or related movement disorder v1.125 | VPS16 | Arina Puzriakova Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.124 | VPS16 | Arina Puzriakova Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, OMIM:619291; Dystonia Associated with Lysosomal Abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.123 | VPS16 | Arina Puzriakova Publications for gene: VPS16 were set to 32808683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.122 | FOXG1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: FOXG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.122 | FOXG1 | Sarah Leigh edited their review of gene: FOXG1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. All of the patients with FOXG1 variants reported in PMID 27029630 abnormal involuntary movements, including chorea/athetosis in 22/25 (88%) cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.122 | FOXG1 | Sarah Leigh Publications for gene: FOXG1 were set to 27029630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.121 | FOXG1 | Sarah Leigh Classified gene: FOXG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.121 | FOXG1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.121 | FOXG1 | Sarah Leigh Gene: foxg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.120 | FOXG1 | Sarah Leigh Phenotypes for gene: FOXG1 were changed from Rett Syndrome, congenital variant, 613454 to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.119 | FOXG1 | Sarah Leigh Publications for gene: FOXG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.118 | FUCA1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: FUCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.118 | FUCA1 | Sarah Leigh Classified gene: FUCA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.118 | FUCA1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.118 | FUCA1 | Sarah Leigh Gene: fuca1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.117 | FUCA1 | Sarah Leigh reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.117 | FUCA1 | Sarah Leigh Phenotypes for gene: FUCA1 were changed from to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.116 | FUCA1 | Sarah Leigh Publications for gene: FUCA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.115 | FUCA1 | Sarah Leigh Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | C9orf72 | Sarah Leigh reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | C9orf72 |
Sarah Leigh Tag Q2_21_phenotype tag was added to gene: C9orf72. Tag Q2_21_expert_review tag was added to gene: C9orf72. |
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Childhood onset dystonia, chorea or related movement disorder v1.114 | C9orf72 | James Polke reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | CSTB | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | CSTB | Sarah Leigh reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | AFG3L2 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.114 | AFG3L2 | Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.113 | AFG3L2 | Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 1654145; 332219868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.112 | AFG3L2 | Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 1654145332219868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.111 | AFG3L2 | Sarah Leigh Publications for gene: AFG3L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.110 | C9orf72_GGGGCC | Sarah Leigh Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.110 | C9orf72_GGGGCC | Sarah Leigh Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.109 | C9orf72 | Sarah Leigh Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.108 | C9orf72 | Sarah Leigh Publications for gene: C9orf72 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.107 | C9orf72_GGGGCC | Sarah Leigh Tag Q2_21_rating tag was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.107 | C9orf72_GGGGCC | Sarah Leigh Classified STR: C9orf72_GGGGCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.107 | C9orf72_GGGGCC | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.107 | C9orf72_GGGGCC | Sarah Leigh Str: c9orf72_ggggcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.106 | C9orf72_GGGGCC | Sarah Leigh Entity copied from Adult onset movement disorder v1.113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.106 | C9orf72_GGGGCC |
Sarah Leigh STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: NHS GMS,Expert Review Green,London North GLH,Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 |
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Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA |
Sarah Leigh changed review comment from: The FXN expansion has a well recognized association with Friedreich ataxia OMIM:229300; to: The FXN expansion has a well recognized association with Friedreich ataxia OMIM:229300 Comment from Zornitza Stark for FXN: Primarily an ataxia, and also commonly caused by a GAA trinucleotide repeat expansion in intron 1 of the FXN gene. |
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Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA | Sarah Leigh Tag Q2_21_rating tag was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA | Sarah Leigh edited their review of STR: FXN_GAA: Added comment: The FXN expansion has a well recognized association with Friedreich ataxia OMIM:229300; Changed rating: GREEN; Changed publications to: 10399865, 8596916, 33670433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA | Sarah Leigh Classified STR: FXN_GAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.105 | FXN_GAA | Sarah Leigh Str: fxn_gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.104 | FXN_GAA | Sarah Leigh Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.104 | FXN_GAA |
Sarah Leigh STR: FXN_GAA was added STR: FXN_GAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list,Expert Review Green STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 |
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Childhood onset dystonia, chorea or related movement disorder v1.103 | GLRB | Sarah Leigh Tag Q2_21_rating tag was added to gene: GLRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.103 | GLRB | Sarah Leigh edited their review of gene: GLRB: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants reported in three unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.103 | GLRB | Sarah Leigh Classified gene: GLRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.103 | GLRB | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.103 | GLRB | Sarah Leigh Gene: glrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.102 | GLRB | Sarah Leigh Publications for gene: GLRB were set to 21391991; 23238346; 11929858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.101 | GLRB | Sarah Leigh Phenotypes for gene: GLRB were changed from Hyperekplexia 2, 614619 to Hyperekplexia 2 OMIM:614619; hyperekplexia 2 MONDO:0013828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.100 | VPS41 | Zornitza Stark edited their review of gene: VPS41: Added comment: PMID 33764426: Additional 9 individuals from 5 unrelated families reported.; Changed rating: GREEN; Changed publications to: 32808683, 33764426; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.100 | UBTF | Arina Puzriakova Classified gene: UBTF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.100 | UBTF | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green status at the next GMS panel update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.100 | UBTF | Arina Puzriakova Gene: ubtf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.99 | UBTF | Arina Puzriakova Publications for gene: UBTF were set to 28777933; 29300972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.98 | UBTF | Arina Puzriakova Tag Q2_21_rating tag was added to gene: UBTF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.98 | UBTF | Arina Puzriakova edited their review of gene: UBTF: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.98 | UBTF | Arina Puzriakova reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972, 30517966, 31931739, 33026538; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.98 | FXN | Sarah Leigh Phenotypes for gene: FXN were changed from Friedreich ataxia; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.97 | UBTF | Arina Puzriakova Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.96 | FITM2 | Sarah Leigh edited their review of gene: FITM2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants reported in at least three unrelated cases. Supportive drosophila model.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.96 | FITM2 | Sarah Leigh Tag Q2_21_rating tag was added to gene: FITM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.96 | FITM2 | Sarah Leigh Classified gene: FITM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.96 | FITM2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.96 | FITM2 | Sarah Leigh Gene: fitm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.95 | FITM2 | Sarah Leigh Phenotypes for gene: FITM2 were changed from Siddiqi syndrome MIM#618635; dystonia; deafness to Siddiqi syndrome OMIM:618635; siddiqi syndrome MONDO:0032842 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.94 | SCN1A | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.94 | SCN1A | Sarah Leigh edited their review of gene: SCN1A: Added comment: A non-Dravet syndrome epileptic encephalopathy phenotype associated with SCN1A variants. Eight cases carriers of p.Thr226Met shared this non-typical phenotype. This phenotype is not represented in OMIM, but they have been notified of the reporting publication (PMID 28794249), additional phenotype may be added to OMIM in the future.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.94 | SCN1A | Sarah Leigh Classified gene: SCN1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.94 | SCN1A | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.94 | SCN1A | Sarah Leigh Gene: scn1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.93 | SCN1A | Sarah Leigh Publications for gene: SCN1A were set to 19332696; 16054936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.92 | SCN1A | Dmitrijs Rots reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28794249; Phenotypes: seizures, developmental delay, dystonia, choreoathetosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.92 | ALDH18A1 | Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586 to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndromeMONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.91 | ALDH18A1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ALDH18A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.91 | MTFMT | Sarah Leigh Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.90 | TSPOAP1 |
Zornitza Stark gene: TSPOAP1 was added gene: TSPOAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPOAP1 were set to 33539324 Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy Review for gene: TSPOAP1 was set to GREEN Added comment: 7 affecteds from 3 families (1 consanguineous) 2x null, 1x missense Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted). Mouse model. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.90 | IRF2BPL | Sarah Leigh Classified gene: IRF2BPL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.90 | IRF2BPL | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.90 | IRF2BPL | Sarah Leigh Gene: irf2bpl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.89 | IRF2BPL | Sarah Leigh Tag Q2_21_rating tag was added to gene: IRF2BPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.89 | IRF2BPL | Sarah Leigh reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.89 | IRF2BPL | Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.88 | IRF2BPL | Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 30166628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.87 | CSTB | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.87 | CSTB | Sarah Leigh Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.86 | CLN5 | Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.85 | MED27 | Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.85 | MED27 | Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.84 | MED27 |
Arina Puzriakova gene: MED27 was added gene: MED27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Q2_21_rating tags were added to gene: MED27. Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy Review for gene: MED27 was set to GREEN Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder' - PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), cataracts (10/15), epilepsy (9/15), and microcephaly (4/14). Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background. Overall sufficient (>3) unrelated cases for inclusion if phenotypes are considered to be within the scope of this panel - most individuals presented dystonic movements, but only 2 sibs experienced generalised dystonia. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TY | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TW | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TV | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TT | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TS2 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TS1 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TR | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TQ | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TP | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TN | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TM | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TL2 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TL1 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TK | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TI | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TH | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TG | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TF | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TE | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TD | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TC | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-TA | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-RNR2 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-RNR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-RNR1 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND6 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND5 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND4L | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND4 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND3 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND2 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ND1 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-CYB | Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-CO3 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-CO2 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-CO1 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ATP8 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | MT-ATP6 | Arina Puzriakova Tag curated_removed tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | C12orf65 | Catherine Snow Tag new-gene-name tag was added to gene: C12orf65. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | C12orf65 | Catherine Snow commented on gene: C12orf65 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | TCTEX1D2 | Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | TCTEX1D2 | Catherine Snow commented on gene: TCTEX1D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | VPS4A | Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.83 | VPS4A | Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.82 | VPS4A | Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.82 | VPS4A |
Arina Puzriakova Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including childhood onset dystonia in 9/10 cases. Pathogenicity is supported by functional data. There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) |
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Childhood onset dystonia, chorea or related movement disorder v1.82 | VPS4A | Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.81 | VPS4A |
Arina Puzriakova gene: VPS4A was added gene: VPS4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review for-review tags were added to gene: VPS4A. Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to 33186545; 33186543; 33460484 Phenotypes for gene: VPS4A were set to CIMDAG syndrome Review for gene: VPS4A was set to GREEN Added comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype. - PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect. - PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity. - PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia Sources: Expert Review |
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Childhood onset dystonia, chorea or related movement disorder v1.80 | MSMO1 | Arina Puzriakova Mode of inheritance for gene: MSMO1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.79 | IFT52 | Arina Puzriakova Mode of inheritance for gene: IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.78 | ICK | Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.77 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.76 | CACNB4 | Sarah Leigh Tag for-review tag was added to gene: CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.76 | CACNB4 | Sarah Leigh edited their review of gene: CACNB4: Added comment: PMID 10762541 reports monoallelic variants associated with Idiopathic Generalized Epilepsy and Episodic Ataxia and PMID 32176688 reports biallelic variants associated with severe neurodevelopmental disorder and impairs channel and non-channel functions. Therefore recommend the MOI be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.76 | TCTEX1D2 | Arina Puzriakova Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.75 | CACNB4 | Sarah Leigh Publications for gene: CACNB4 were set to 10762541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.74 | CACNB4 | Sarah Leigh commented on gene: CACNB4: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in at least 3 unrelated cases, together with supportive functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.74 | CACNB4 | Sarah Leigh reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32176688; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.74 | RNU7-1 | Arina Puzriakova Classified gene: RNU7-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.74 | RNU7-1 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spastic dystonia was a feature in 9/16 patients (7 families) reported with biallelic variants in this gene (PMID:33230297) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.74 | RNU7-1 | Arina Puzriakova Gene: rnu7-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.73 | RNU7-1 |
Arina Puzriakova gene: RNU7-1 was added gene: RNU7-1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature for-review tags were added to gene: RNU7-1. Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like; Type I interferonopathy Review for gene: RNU7-1 was set to GREEN Added comment: Not associated with any phenotype in OMIM or Gene2Phenotype. - PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.72 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 32096284; 32935419 Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability Review for gene: KIF1A was set to GREEN gene: KIF1A was marked as current diagnostic Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.72 | B9D2 | Arina Puzriakova Publications for gene: B9D2 were set to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.71 | B9D2 | Arina Puzriakova Phenotypes for gene: B9D2 were changed from Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.70 | MPI | Arina Puzriakova Mode of inheritance for gene: MPI was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.69 | MPI | Arina Puzriakova Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.68 | KCNMA1 | Arina Puzriakova Publications for gene: KCNMA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.67 | KCNMA1 | Arina Puzriakova Phenotypes for gene: KCNMA1 were changed from Cerebellar atrophy, developmental delay, and seizures, 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.66 | AASS | Arina Puzriakova Phenotypes for gene: AASS were changed from Hyperlysinemia; Saccharopinuria, 268700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.65 | AAAS | Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.64 | DDC | Arina Puzriakova Publications for gene: DDC were set to 27830117; 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.63 | DDC | Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.62 | VPS41 |
Zornitza Stark gene: VPS41 was added gene: VPS41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS41 were set to 32808683 Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability Review for gene: VPS41 was set to RED Added comment: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.62 | VPS16 |
Zornitza Stark gene: VPS16 was added gene: VPS16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS16 were set to 32808683 Phenotypes for gene: VPS16 were set to Dystonia Review for gene: VPS16 was set to GREEN Added comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood. Additional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B | Arina Puzriakova Classified gene: YIF1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B |
Arina Puzriakova Added comment: Comment on list classification: There is a sufficient number of cases to rate this gene Green at the next major review. Profound delay in motor development is part of the phenotype, as well as dystonia, spasticity and dyskinesia. |
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Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B | Arina Puzriakova Gene: yif1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.61 | YIF1B |
Arina Puzriakova gene: YIF1B was added gene: YIF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list for-review tags were added to gene: YIF1B. Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 32006098 Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement Review for gene: YIF1B was set to GREEN Added comment: - PMID: 32006098 - 6 individuals (from 5 families) with biallelic YIF1B truncating variants. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder including dystonia (5/6), spasticity (6/6), dyskinesia (5/5). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichment in genes important for nervous system development and function. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.59 | Arina Puzriakova Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.57 | CSTB_CCCCGCCCCGCG | Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.57 | CSTB_CCCCGCCCCGCG | Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.56 | CSTB_CCCCGCCCCGCG |
Arina Puzriakova STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Childhood onset dystonia or chorea or related movement disorder. 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: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.55 | TBP_CAG | Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.55 | TBP_CAG | Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.54 | TBP_CAG |
Arina Puzriakova STR: TBP_CAG was added STR: TBP_CAG was added to Childhood onset dystonia or chorea or related movement disorder. 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 STR: TBP_CAG was marked as current diagnostic Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.53 | ATXN2_CAG | Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.53 | ATXN2_CAG | Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.52 | ATXN2_CAG |
Arina Puzriakova STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Childhood onset dystonia or chorea or related movement disorder. 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 STR: ATXN2_CAG was marked as current diagnostic Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | GNB1 | Shekeeb Mohammad reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31034681, 27668284; Phenotypes: Myoclonus, Dystonia, Childhood onset dystonia, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | XK |
Zornitza Stark gene: XK was added gene: XK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: XK 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: XK were set to 11761473 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842 Review for gene: XK was set to GREEN gene: XK was marked as current diagnostic Added comment: 5 out of 13 cases had dystonia as a feature of the condition. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | UBTF |
Zornitza Stark gene: UBTF was added gene: UBTF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBTF were set to 28777933; 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Mode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: UBTF was set to GREEN gene: UBTF was marked as current diagnostic Added comment: 7 out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | TBC1D24 |
Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D24 were set to 31257402 Phenotypes for gene: TBC1D24 were set to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 Review for gene: TBC1D24 was set to GREEN Added comment: Three unrelated families reported with rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC), an autosomal recessive neurologic disorder characterised by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist. Three unrelated families reported with this specific phenotype, though variants in this gene are associated with a range of other neurological disorders and may represent a spectrum of severity. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SYT1 |
Zornitza Stark gene: SYT1 was added gene: SYT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYT1 were set to 30107533 Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218 Review for gene: SYT1 was set to GREEN gene: SYT1 was marked as current diagnostic Added comment: 4 out of 11 individuals with a de novo variant had dystonia as a feature of the phenotype. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SQSTM1 |
Zornitza Stark changed review comment from: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. None noted to have myopathy. Sources: Expert list; to: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SQSTM1 | Zornitza Stark edited their review of gene: SQSTM1: Changed phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | SQSTM1 |
Zornitza Stark gene: SQSTM1 was added gene: SQSTM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to 27545679 Phenotypes for gene: SQSTM1 were set to Myopathy, distal, with rimmed vacuoles , MIM#617158 Review for gene: SQSTM1 was set to GREEN Added comment: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. None noted to have myopathy. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SNORD118 |
Zornitza Stark gene: SNORD118 was added gene: SNORD118 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561 Review for gene: SNORD118 was set to GREEN Added comment: At least 6 cases/families reported with dystonia as a feature of the condition. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 31410843 Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523 Review for gene: SLC16A2 was set to GREEN gene: SLC16A2 was marked as current diagnostic Added comment: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | PRNP | Zornitza Stark reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease-like 1, MIM# 603218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | SLC18A2 | Zornitza Stark reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473, 31240161, 26497564; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Tag for-review tag was added to gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Classified gene: HNRNPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - two studies report de novo variants in at least 6 unrelated cases with a movement phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Gene: hnrnph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.50 | HNRNPH1 |
Arina Puzriakova gene: HNRNPH1 was added gene: HNRNPH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPH1 were set to 29938792; 32335897 Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder Review for gene: HNRNPH1 was set to GREEN Added comment: Probable gene for HNRNPH1-related neurodevelopmental disorder in G2P, but currently not associated with any phenotype in OMIM (last edited on 21/07/2017). Two studies report de novo variants in 8 unrelated cases with a syndromic intellectual disability disorder. Clinical features included moderate-severe GDD/ID (7/7), abnormalities on brain MRI (8/8), ophthalmological abnormalities (7/8), short stature (6/8), and microcephaly (6/8). Movement manifestations were also observed - 3 individuals were non-ambulatory, while another 3 presented dystonia, one of whom also had ataxia, tremor, and wide‐based gait. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | PDGFB | Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | OCLN | Zornitza Stark reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 1, MIM# 251290; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | L2HGDH | Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753671, 18780161, 15824270, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | KCNQ2 | Zornitza Stark reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: 12742592; Phenotypes: Epileptic encephalopathy, early infantile, 7 MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | IRF2BPL |
Zornitza Stark gene: IRF2BPL was added gene: IRF2BPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BPL were set to 30057031; 30166628 Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Review for gene: IRF2BPL was set to GREEN gene: IRF2BPL was marked as current diagnostic Added comment: PMID: 30057031 - 7 individuals with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported. PMID: 30166628 - 11 individuals with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | HPRT1 | Zornitza Stark reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301328; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | GRIN1 |
Zornitza Stark gene: GRIN1 was added gene: GRIN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072 Phenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Review for gene: GRIN1 was set to GREEN gene: GRIN1 was marked as current diagnostic Added comment: Over 20 individuals reported with de novo missense variants in GRIN1 and severe neurodevelopmental phenotype, comprising ID, seizures, and a movement disorder, in particular dystonia. Two families reported with bi-allelic variants: different mechanism postulated (LOF vs affecting channel functioning or hypomorphic alleles), parents were carriers and unaffected. Movement disorder, in particular dystonia also reported in bi-allelic cases. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | GNB1 |
Zornitza Stark gene: GNB1 was added gene: GNB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 27108799; 30194818; 27668284; 31034681 Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, MIM# 616973 Review for gene: GNB1 was set to GREEN gene: GNB1 was marked as current diagnostic Added comment: Multiple reports of dystonia in this disorder. In a recent series of 18 individuals with de novo mutations, the most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | GLRB | Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | FXN | Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia, MIM# 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | FUCA1 | Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064022; Phenotypes: Fucosidosis, MIM#230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | FOXG1 | Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27029630; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | FITM2 |
Zornitza Stark gene: FITM2 was added gene: FITM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FITM2 were set to 28067622; 30214770; 30288795 Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness Review for gene: FITM2 was set to GREEN gene: FITM2 was marked as current diagnostic Added comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | CSTB | Zornitza Stark reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | CACNB4 | Zornitza Stark reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | C9orf72 | Zornitza Stark changed review comment from: Dystonia is well described but this appears to be an adult-onset disorder.; to: Dystonia is well described but this appears to be an adult-onset disorder. Also note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | C9orf72 | Zornitza Stark reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: 26166205, 24363131, 26187722; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | BCS1L | Zornitza Stark reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | ALDH18A1 | Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586, Spastic paraplegia 9A, autosomal dominant, MIM# 601162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 22964162, 16541453; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | TIMM8A | Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.49 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | COL6A3 | Eleanor Williams Tag for-review tag was added to gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | COL6A3 | Eleanor Williams reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TW | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TV | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TT | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TS2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TS1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TR | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TQ | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TP | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TN | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TM | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TL2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TL1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TI | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TH | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TG | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TF | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TE | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TD | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TA | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-RNR2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-RNR1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND4L | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CYB | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ATP8 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TK | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TC | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND6 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND5 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND4 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND3 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO3 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ATP6 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams Classified gene: MT-TY as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams Gene: mt-ty has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.44 | MT-TW | Eleanor Williams Classified gene: MT-TW as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.44 | MT-TW | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.44 | MT-TW | Eleanor Williams Gene: mt-tw has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.43 | MT-TV | Eleanor Williams Classified gene: MT-TV as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.43 | MT-TV | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.43 | MT-TV | Eleanor Williams Gene: mt-tv has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.42 | MT-TT | Eleanor Williams Classified gene: MT-TT as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.42 | MT-TT | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.42 | MT-TT | Eleanor Williams Gene: mt-tt has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.41 | MT-TS2 | Eleanor Williams Classified gene: MT-TS2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.41 | MT-TS2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.41 | MT-TS2 | Eleanor Williams Gene: mt-ts2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.40 | MT-TS1 | Eleanor Williams Classified gene: MT-TS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.40 | MT-TS1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.40 | MT-TS1 | Eleanor Williams Gene: mt-ts1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.39 | MT-TR | Eleanor Williams Classified gene: MT-TR as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.39 | MT-TR | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.39 | MT-TR | Eleanor Williams Gene: mt-tr has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.38 | MT-TQ | Eleanor Williams Classified gene: MT-TQ as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.38 | MT-TQ | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.38 | MT-TQ | Eleanor Williams Gene: mt-tq has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.37 | MT-TP | Eleanor Williams Classified gene: MT-TP as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.37 | MT-TP | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.37 | MT-TP | Eleanor Williams Gene: mt-tp has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.36 | MT-TN | Eleanor Williams Classified gene: MT-TN as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.36 | MT-TN | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.36 | MT-TN | Eleanor Williams Gene: mt-tn has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.35 | MT-TM | Eleanor Williams Classified gene: MT-TM as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.35 | MT-TM | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.35 | MT-TM | Eleanor Williams Gene: mt-tm has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.34 | MT-TL2 | Eleanor Williams Classified gene: MT-TL2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.34 | MT-TL2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.34 | MT-TL2 | Eleanor Williams Gene: mt-tl2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.33 | MT-TL1 | Eleanor Williams Classified gene: MT-TL1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.33 | MT-TL1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.33 | MT-TL1 | Eleanor Williams Gene: mt-tl1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.32 | MT-TI | Eleanor Williams Classified gene: MT-TI as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.32 | MT-TI | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.32 | MT-TI | Eleanor Williams Gene: mt-ti has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.31 | MT-TH | Eleanor Williams Classified gene: MT-TH as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.31 | MT-TH | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.31 | MT-TH | Eleanor Williams Gene: mt-th has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.30 | MT-TG | Eleanor Williams Classified gene: MT-TG as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.30 | MT-TG | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.30 | MT-TG | Eleanor Williams Gene: mt-tg has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.29 | MT-TF | Eleanor Williams Classified gene: MT-TF as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.29 | MT-TF | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.29 | MT-TF | Eleanor Williams Gene: mt-tf has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.28 | MT-TE | Eleanor Williams Classified gene: MT-TE as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.28 | MT-TE | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.28 | MT-TE | Eleanor Williams Gene: mt-te has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.27 | MT-TD | Eleanor Williams Classified gene: MT-TD as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.27 | MT-TD | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.27 | MT-TD | Eleanor Williams Gene: mt-td has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.26 | MT-TA | Eleanor Williams Classified gene: MT-TA as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.26 | MT-TA | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.26 | MT-TA | Eleanor Williams Gene: mt-ta has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.25 | MT-RNR2 | Eleanor Williams Classified gene: MT-RNR2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.25 | MT-RNR2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.25 | MT-RNR2 | Eleanor Williams Gene: mt-rnr2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.24 | MT-RNR1 | Eleanor Williams Classified gene: MT-RNR1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.24 | MT-RNR1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.24 | MT-RNR1 | Eleanor Williams Gene: mt-rnr1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.23 | MT-ND4L | Eleanor Williams Classified gene: MT-ND4L as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.23 | MT-ND4L | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.23 | MT-ND4L | Eleanor Williams Gene: mt-nd4l has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.22 | MT-ND2 | Eleanor Williams Classified gene: MT-ND2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.22 | MT-ND2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.22 | MT-ND2 | Eleanor Williams Gene: mt-nd2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.21 | MT-CYB | Eleanor Williams Classified gene: MT-CYB as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.21 | MT-CYB | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.21 | MT-CYB | Eleanor Williams Gene: mt-cyb has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.20 | MT-CO2 | Eleanor Williams Classified gene: MT-CO2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.20 | MT-CO2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.20 | MT-CO2 | Eleanor Williams Gene: mt-co2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.19 | MT-CO1 | Eleanor Williams Classified gene: MT-CO1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.19 | MT-CO1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.19 | MT-CO1 | Eleanor Williams Gene: mt-co1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.18 | MT-ATP8 | Eleanor Williams Classified gene: MT-ATP8 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.18 | MT-ATP8 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.18 | MT-ATP8 | Eleanor Williams Gene: mt-atp8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.17 | MT-TK | Eleanor Williams Classified gene: MT-TK as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.17 | MT-TK | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.17 | MT-TK | Eleanor Williams Gene: mt-tk has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.16 | MT-TC | Eleanor Williams Classified gene: MT-TC as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.16 | MT-TC | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.16 | MT-TC | Eleanor Williams Gene: mt-tc has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.15 | MT-ND6 | Eleanor Williams Classified gene: MT-ND6 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.15 | MT-ND6 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.15 | MT-ND6 | Eleanor Williams Gene: mt-nd6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.14 | MT-ND5 | Eleanor Williams Classified gene: MT-ND5 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.14 | MT-ND5 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.14 | MT-ND5 | Eleanor Williams Gene: mt-nd5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.13 | MT-ND4 | Eleanor Williams Classified gene: MT-ND4 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.13 | MT-ND4 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.13 | MT-ND4 | Eleanor Williams Gene: mt-nd4 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.12 | MT-ND3 | Eleanor Williams Classified gene: MT-ND3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.12 | MT-ND3 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.12 | MT-ND3 | Eleanor Williams Gene: mt-nd3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.11 | MT-ND1 | Eleanor Williams Classified gene: MT-ND1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.11 | MT-ND1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.11 | MT-ND1 | Eleanor Williams Gene: mt-nd1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.10 | MT-CO3 | Eleanor Williams Classified gene: MT-CO3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.10 | MT-CO3 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.10 | MT-CO3 | Eleanor Williams Gene: mt-co3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.9 | MT-ATP6 | Eleanor Williams Classified gene: MT-ATP6 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.9 | MT-ATP6 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.9 | MT-ATP6 | Eleanor Williams Gene: mt-atp6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.8 | EIF2AK2 | Arina Puzriakova Classified gene: EIF2AK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.8 | EIF2AK2 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.8 | EIF2AK2 | Arina Puzriakova Gene: eif2ak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.7 | EIF2AK2 |
Arina Puzriakova gene: EIF2AK2 was added gene: EIF2AK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature for-review tags were added to gene: EIF2AK2. Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Review for gene: EIF2AK2 was set to GREEN Added comment: Association with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation reported in both OMIM and G2P (probable). PMID: 32197074 (2020) - Distinct de novo missense variants were identified in eight unrelated individuals who all share a notable phenotypic overlap of developmental delay, cognitive impairment, white matter alterations, dysarthria or lack of speech, and neurologic regression with febrile illness. Other variable features included hypotonia (7/8), hypertonia (7/8), ataxia (6/8), dystonia (5/8), tremor (3/8) and seizures (4/8). Functional data confirm reduced kinase activity compared to the wildtype protein product, and authors predict a dominant-negative effect. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least three unrelated cases presenting a movement phenotype following a period of regression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Tag for-review tag was added to gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova edited their review of gene: NDUFA2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova Tag watchlist was removed from gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova Tag watchlist tag was added to gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 32154054; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NGLY1 | Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | PIGA | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | WDR34 | Catherine Snow commented on gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | WDR34 | Catherine Snow Tag new-gene-name tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | COL6A3 | Zornitza Stark reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26004199, 32037012, 26872670; Phenotypes: Dystonia 27, MIM#616411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.3 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | HFE2 | Louise Daugherty Tag new-gene-name tag was added to gene: HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | HFE2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | HFE2 | Louise Daugherty commented on gene: HFE2: Added new-gene-name tag, new approved HGNC gene symbol for HFE2 is HJV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | ICK | Louise Daugherty Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | ICK | Louise Daugherty commented on gene: ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | MUT | Louise Daugherty Tag new-gene-name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | GARS | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | GARS | Louise Daugherty Tag new-gene-name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | GARS | Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | C5orf42 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | C5orf42 | Louise Daugherty commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | C21orf2 | Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.259 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | CP | Louise Daugherty commented on gene: CP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | CHMP2B | Louise Daugherty commented on gene: CHMP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | RNASEH2A | Louise Daugherty commented on gene: RNASEH2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | L2HGDH | Louise Daugherty commented on gene: L2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | HPRT1 | Louise Daugherty commented on gene: HPRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | CIZ1 | Louise Daugherty commented on gene: CIZ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | AUH | Louise Daugherty commented on gene: AUH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | TREX1 | Louise Daugherty commented on gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Classified gene: TPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Reported in multiple families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | TIMM8A | Louise Daugherty commented on gene: TIMM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | TAF1 | Louise Daugherty commented on gene: TAF1: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | SUOX | Louise Daugherty commented on gene: SUOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | SAMHD1 | Louise Daugherty commented on gene: SAMHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | RNASEH2C | Louise Daugherty Tag founder-effect tag was added to gene: RNASEH2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | RNASEH2C | Louise Daugherty commented on gene: RNASEH2C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | RNASEH2B | Louise Daugherty commented on gene: RNASEH2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | PDHX | Louise Daugherty commented on gene: PDHX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | NPC2 | Louise Daugherty commented on gene: NPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | HEXA | Louise Daugherty commented on gene: HEXA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | GNAL | Louise Daugherty Classified gene: GNAL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | GNAL | Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple unrelated families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.257 | GNAL | Louise Daugherty Gene: gnal has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | FOXRED1 | Louise Daugherty commented on gene: FOXRED1: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Also on mitochondrial panel, more of a mitochondrial phenotype but may present early with movement disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | ARSA | Louise Daugherty changed review comment from: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019; to: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | AFG3L2 | Louise Daugherty changed review comment from: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019; to: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple unrelated families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | ARSA | Louise Daugherty commented on gene: ARSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | ACTB |
Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem; to: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem |
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Childhood onset dystonia, chorea or related movement disorder v0.256 | AFG3L2 | Louise Daugherty commented on gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | ACTB | Louise Daugherty Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.256 | ACTB |
Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem |
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Childhood onset dystonia, chorea or related movement disorder v0.256 | ACTB | Louise Daugherty Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.255 | COL6A3 | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.255 | COL6A3 | Louise Daugherty Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.254 | VAMP1 | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.254 | VAMP1 | Louise Daugherty Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.253 | SETX | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.253 | SETX | Louise Daugherty Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.252 | SYNJ1 | Louise Daugherty Phenotypes for gene: SYNJ1 were changed from Parkinson disease 20, early-onset; juvenile Parkinsonism to Parkinson disease 20, early-onset, 615530; juvenile Parkinsonism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.251 | SUCLA2 | Louise Daugherty Phenotypes for gene: SUCLA2 were changed from Dystonia to Dystonia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.250 | SLC6A8 | Louise Daugherty Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1 to Cerebral creatine deficiency syndrome 1, 300352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.249 | SCN8A | Louise Daugherty Phenotypes for gene: SCN8A were changed from paroxysmal kinesigenic dyskinesias; epilepsy to paroxysmal kinesigenic dyskinesias; epilepsy, Seizures, benign familial infantile, 5, 617080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.248 | RNASET2 | Louise Daugherty Phenotypes for gene: RNASET2 were changed from Leukoencephalopathy, cystic, without megalencephaly to Leukoencephalopathy, cystic, without megalencephaly, 612951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.247 | PRRT2 | Louise Daugherty Phenotypes for gene: PRRT2 were changed from CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.246 | PRKN | Louise Daugherty Phenotypes for gene: PRKN were changed from Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia to Dystonia; Parkinson disease, juvenile, type 2, 600116; juvenile parkinsonism/dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.245 | POLR3A | Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.244 | PNKP | Louise Daugherty Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.243 | PINK1 | Louise Daugherty Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset; Dystonia to Parkinson disease 6, early onset, 605909; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.242 | PET100 | Louise Daugherty Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, 220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.241 | PANK2 | Louise Daugherty Phenotypes for gene: PANK2 were changed from Dystonia; pantothenate kinase-associated neurodegeneration to Dystonia; pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1, 234200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.240 | OPA3 | Louise Daugherty Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III to 3-methylglutaconic aciduria, type III, 258501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.239 | NPC1 | Louise Daugherty Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1; Niemann-Pick disease, type D to Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.238 | NGLY1 | Louise Daugherty Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation to Congenital disorder of deglycosylation, 615273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.237 | NDUFS1 | Louise Daugherty Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 to Mitochondrial complex I deficiency, nuclear type 5, 618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.236 | NDUFAF5 | Louise Daugherty Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex I deficiency, nuclear type 16 to Mitochondrial complex I deficiency, nuclear type 16, 618238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.235 | MTFMT | Louise Daugherty Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 to Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.234 | MRE11 | Louise Daugherty Phenotypes for gene: MRE11 were changed from Ataxia-telangiectasia-like disorder 1 to Ataxia-telangiectasia-like disorder 1, 604391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.233 | MARS2 | Louise Daugherty Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.232 | LRPPRC | Louise Daugherty Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type to Leigh syndrome, French-Canadian type, 220111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.231 | KIF1C | Louise Daugherty Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive to Spastic ataxia 2, autosomal recessive, 611302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.230 | KCNMA1 | Louise Daugherty Phenotypes for gene: KCNMA1 were changed from Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy to Cerebellar atrophy, developmental delay, and seizures, 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.229 | HSPD1 | Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4 to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.228 | HCFC1 | Louise Daugherty Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.227 | GTPBP2 | Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome to Jaberi-Elahi syndrome, 617988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.226 | GM2A | Louise Daugherty Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant to GM2-gangliosidosis, AB variant, 272750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.225 | GLB1 | Louise Daugherty Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis to GM1-gangliosidosis, type III, 230650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.224 | GJC2 | Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2 to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.223 | GCDH | Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.222 | MT-ATP6 | Louise Daugherty Phenotypes for gene: MT-ATP6 were changed from to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.221 | MT-CO3 | Louise Daugherty Phenotypes for gene: MT-CO3 were changed from to MITOCHONDRIAL COMPLEX IV DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.220 | MT-ND1 | Louise Daugherty Phenotypes for gene: MT-ND1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.220 | MT-ND1 | Louise Daugherty Phenotypes for gene: MT-ND1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.219 | MT-ND3 | Louise Daugherty Phenotypes for gene: MT-ND3 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.218 | MT-ND4 | Louise Daugherty Phenotypes for gene: MT-ND4 were changed from to Leber Optic Atrophy And Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.217 | MT-ND5 | Louise Daugherty Phenotypes for gene: MT-ND5 were changed from MELAS SYNDROME to Leber Optic Atrophy And Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.216 | MT-ND5 | Louise Daugherty Phenotypes for gene: MT-ND5 were changed from to MELAS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.215 | MT-TC | Louise Daugherty Phenotypes for gene: MT-TC were changed from to DYSTONIA, MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.214 | MT-TK | Louise Daugherty Phenotypes for gene: MT-TK were changed from to MERRF SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.213 | VPS13D | Louise Daugherty Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4 to Spinocerebellar ataxia, autosomal recessive 4, 607317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.212 | ZSWIM6 | Louise Daugherty Phenotypes for gene: ZSWIM6 were changed from Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.211 | GBA | Louise Daugherty Phenotypes for gene: GBA were changed from Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC; Gaucher disease, perinatal lethal to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type III 231000; Gaucher disease, type IIIC, 231005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.210 | FXN | Louise Daugherty Phenotypes for gene: FXN were changed from Friedreich ataxia; Friedreich ataxia with retained reflexes to Friedreich ataxia; Friedreich ataxia with retained reflexes, 229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.209 | FBXO7 | Louise Daugherty Phenotypes for gene: FBXO7 were changed from juvenile parkinsonism; Dystonia to Parkinson disease 15, autosomal recessive, 260300; juvenile parkinsonism; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.208 | ECHS1 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.207 | DLD | Louise Daugherty Phenotypes for gene: DLD were changed from Dihydrolipoamide dehydrogenase deficiency to Dihydrolipoamide dehydrogenase deficiency, 246900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.206 | DCAF17 | Louise Daugherty Phenotypes for gene: DCAF17 were changed from Dystonia; Woodhouse-Sakati syndrome to Dystonia; Woodhouse-Sakati syndrome, 241080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.205 | CSTB | Louise Daugherty Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.205 | CSTB | Louise Daugherty Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.204 | COL6A3 | Louise Daugherty Phenotypes for gene: COL6A3 were changed from Dystonia 27 to Dystonia 27, 616411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.203 | CLPB | Louise Daugherty Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.202 | CLN5 | Louise Daugherty Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, 256731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.201 | CLN3 | Louise Daugherty Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, 204200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.200 | C19orf12 | Louise Daugherty Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to neurodegeneration with brain iron accumulation-4, 614298; mitochondrial membrane protein-associated neurodegeneration; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.199 | ATM | Louise Daugherty Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Dystonia; Ataxia telangiectasia, 208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.198 | APTX | Louise Daugherty Phenotypes for gene: APTX were changed from Dystonia to Dystonia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.197 | WWOX | Louise Daugherty Mode of inheritance for gene: WWOX was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.196 | WWOX | Louise Daugherty Phenotypes for gene: WWOX were changed from to Spinocerebellar ataxia, autosomal recessive 12, 614322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.195 | WFS1 | Louise Daugherty Mode of inheritance for gene: WFS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.194 | WFS1 | Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.193 | TTBK2 | Louise Daugherty Mode of inheritance for gene: TTBK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.192 | TTBK2 | Louise Daugherty Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, 604432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.191 | TPP1 | Louise Daugherty Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.190 | TPP1 | Louise Daugherty Phenotypes for gene: TPP1 were changed from to Spinocerebellar ataxia, autosomal recessive 7, 609270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.189 | TMEM240 | Louise Daugherty Mode of inheritance for gene: TMEM240 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.188 | TMEM240 | Louise Daugherty Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, 607454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.187 | TGM6 | Louise Daugherty Mode of inheritance for gene: TGM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.186 | TGM6 | Louise Daugherty Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, 613908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.185 | STUB1 | Louise Daugherty Mode of inheritance for gene: STUB1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.184 | STUB1 | Louise Daugherty Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, 615768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.183 | SPG7 | Louise Daugherty Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.182 | SPG7 | Louise Daugherty Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, 607259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.181 | SNX14 | Louise Daugherty Mode of inheritance for gene: SNX14 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.180 | SNX14 | Louise Daugherty Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20, 616354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.179 | SIL1 | Louise Daugherty Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.178 | SIL1 | Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.177 | SACS | Louise Daugherty Mode of inheritance for gene: SACS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.176 | SACS | Louise Daugherty Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type, 270550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.175 | PRKCG | Louise Daugherty Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.174 | PRKCG | Louise Daugherty Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, 605361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.173 | PPP2R2B | Louise Daugherty Mode of inheritance for gene: PPP2R2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.172 | PPP2R2B | Louise Daugherty Phenotypes for gene: PPP2R2B were changed from to Spinocerebellar ataxia 12, 604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.171 | PDYN | Louise Daugherty Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23, 610245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.170 | NOP56 | Louise Daugherty Mode of inheritance for gene: NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.169 | NOP56 | Louise Daugherty Phenotypes for gene: NOP56 were changed from to Spinocerebellar ataxia 36, 614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.168 | KCND3 | Louise Daugherty Mode of inheritance for gene: KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.167 | KCND3 | Louise Daugherty Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, 607346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.166 | KCNC3 | Louise Daugherty Mode of inheritance for gene: KCNC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.165 | KCNC3 | Louise Daugherty Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, 605259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.164 | ITPR1 | Louise Daugherty Mode of inheritance for gene: ITPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.163 | ITPR1 | Louise Daugherty Phenotypes for gene: ITPR1 were changed from to Spinocerebellar ataxia 15, 606658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.162 | GRM1 | Louise Daugherty Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.161 | GRM1 | Louise Daugherty Mode of inheritance for gene: GRM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.160 | GRID2 | Louise Daugherty Mode of inheritance for gene: GRID2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.159 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18, 616204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.158 | GRID2 | Louise Daugherty Phenotypes for gene: GRID2 were changed from to Spinocerebellar ataxia, autosomal recessive 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.157 | FGF14 | Louise Daugherty Mode of inheritance for gene: FGF14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.156 | FGF14 | Louise Daugherty Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, 609307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.155 | ELOVL4 | Louise Daugherty Mode of inheritance for gene: ELOVL4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.154 | ELOVL4 | Louise Daugherty Phenotypes for gene: ELOVL4 were changed from to Ichthyosis, spastic quadriplegia, and mental retardation, 614457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.153 | DNAJC5 | Louise Daugherty Mode of inheritance for gene: DNAJC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.152 | DNAJC5 | Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.151 | DMPK | Louise Daugherty Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.150 | DMPK | Louise Daugherty Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, 16090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.149 | CWF19L1 | Louise Daugherty Mode of inheritance for gene: CWF19L1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.148 | CWF19L1 | Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.147 | CTSD | Louise Daugherty Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.146 | CTSD | Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.145 | CLN8 | Louise Daugherty Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.144 | CLN8 | Louise Daugherty Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, 600143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.143 | CA8 | Louise Daugherty Publications for gene: CA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.142 | CA8 | Louise Daugherty Mode of inheritance for gene: CA8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.141 | CA8 | Louise Daugherty Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.140 | ATXN7 | Louise Daugherty Mode of inheritance for gene: ATXN7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.139 | ATXN7 | Louise Daugherty Phenotypes for gene: ATXN7 were changed from to Spinocerebellar ataxia 7, 164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.138 | ATXN10 | Louise Daugherty Mode of inheritance for gene: ATXN10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.137 | ATXN10 | Louise Daugherty Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.136 | ATXN1 | Louise Daugherty Mode of inheritance for gene: ATXN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.135 | ATXN1 | Louise Daugherty Phenotypes for gene: ATXN1 were changed from to Spinocerebellar ataxia 1, 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.134 | ATCAY | Louise Daugherty Mode of inheritance for gene: ATCAY was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.133 | ATCAY | Louise Daugherty Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, 601238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.132 | ANO10 | Louise Daugherty Mode of inheritance for gene: ANO10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.131 | ANO10 | Louise Daugherty Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10, 613728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.130 | ACSF3 | Louise Daugherty Mode of inheritance for gene: ACSF3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.129 | ACSF3 | Louise Daugherty Phenotypes for gene: ACSF3 were changed from to Combined malonic and methylmalonic aciduria, 614265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.128 | ABCB7 | Louise Daugherty Mode of inheritance for gene: ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.127 | ABCB7 | Louise Daugherty Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, 301310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.126 | AASS | Louise Daugherty Mode of inheritance for gene: AASS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.125 | AASS | Louise Daugherty Phenotypes for gene: AASS were changed from to Hyperlysinemia; Saccharopinuria, 268700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.124 | AAAS | Louise Daugherty Mode of inheritance for gene: AAAS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.123 | AAAS | Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.122 | VAMP2 | Louise Daugherty Publications for gene: VAMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.121 | VAMP2 | Louise Daugherty changed review comment from: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input.; to: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.121 | VAMP2 | Louise Daugherty Added comment: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.121 | VAMP2 | Louise Daugherty Phenotypes for gene: VAMP2 were changed from to axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.120 | AP1S2 | Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5 304340 to Dystonia; Mental retardation, X-linked syndromic 5, 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.119 | GNAL |
Louise Daugherty changed review comment from: Comment on list classification: downgraded until Specialist Test Group review - need more evidence; to: Comment on list classification: downgraded until Specialist Test Group review rating in view of age of onset Average age at onset 31 years (range 7 to 54) Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID. |
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Childhood onset dystonia, chorea or related movement disorder v0.119 | GNAL | Louise Daugherty Classified gene: GNAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.119 | GNAL | Louise Daugherty Added comment: Comment on list classification: downgraded until Specialist Test Group review - need more evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.119 | GNAL | Louise Daugherty Gene: gnal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.118 | ZSWIM6 | Louise Daugherty Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis 603671 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.117 | VAMP1 | Louise Daugherty Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, 108600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.116 | TAF1 | Louise Daugherty Added comment: Comment on phenotypes: NB: complex mutation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.116 | TAF1 | Louise Daugherty Phenotypes for gene: TAF1 were changed from (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.115 | SLC6A3 | Louise Daugherty Phenotypes for gene: SLC6A3 were changed from {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.114 | PDGFB | Louise Daugherty Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, 615483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.113 | OCLN | Louise Daugherty Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Band-like calcification with simplified gyration and polymicrogyria, 251290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.112 | HEXA | Louise Daugherty Phenotypes for gene: HEXA were changed from [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to Hex A pseudodeficiency, 272800 AR; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.111 | ADCY5 | Louise Daugherty Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 to Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia, 606703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.110 | FOXRED1 | Louise Daugherty Added comment: Comment on mode of inheritance: changed from unknown to biallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.110 | FOXRED1 | Louise Daugherty Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.109 | ACOX1 | Louise Daugherty Added comment: Comment on phenotypes: Added phenotype from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.109 | ACOX1 | Louise Daugherty Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, 264470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.108 | PNKP | Ellen McDonagh Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.107 | PNKP | Ellen McDonagh Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.106 | PDE2A | Ellen McDonagh Added comment: Comment on mode of inheritance: Based on Paroxysmal central nervous system disorders gene panel, version 1.0. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.106 | PDE2A | Ellen McDonagh Mode of inheritance for gene: PDE2A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.105 | PDE2A | Ellen McDonagh Phenotypes for gene: PDE2A were changed from to infantile‐onset chorea‐predominant movement disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.104 | PDE2A | Ellen McDonagh Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.103 | VAMP2 | Ellen McDonagh Added comment: Comment on mode of inheritance: Based on other panels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.103 | VAMP2 | Ellen McDonagh Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.102 | VPS13D | Ellen McDonagh Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.101 | VPS13D | Ellen McDonagh Mode of inheritance for gene: VPS13D was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.100 | VAMP1 | Ellen McDonagh Mode of inheritance for gene: VAMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.99 | VAMP1 | Ellen McDonagh Mode of inheritance for gene: VAMP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.98 | SLC6A8 | Ellen McDonagh Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.97 | SLC6A8 | Ellen McDonagh Mode of inheritance for gene: SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.96 | SETX | Ellen McDonagh Phenotypes for gene: SETX were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.95 | SETX | Ellen McDonagh Mode of inheritance for gene: SETX was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.94 | RNASET2 | Ellen McDonagh Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.93 | RNASET2 | Ellen McDonagh Mode of inheritance for gene: RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.92 | POLR3A | Ellen McDonagh Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.91 | POLR3A | Ellen McDonagh Mode of inheritance for gene: POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.90 | PET100 | Ellen McDonagh Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.89 | PET100 | Ellen McDonagh Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.88 | GLB1 | Ellen McDonagh Mode of inheritance for gene: GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.87 | OPA3 | Ellen McDonagh Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.86 | OPA3 | Ellen McDonagh Mode of inheritance for gene: OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.85 | NPC1 | Ellen McDonagh Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1; Niemann-Pick disease, type D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.84 | NPC1 | Ellen McDonagh Mode of inheritance for gene: NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.83 | NGLY1 | Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.82 | NGLY1 | Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.81 | NDUFS1 | Ellen McDonagh Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.80 | NDUFS1 | Ellen McDonagh Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.79 | NDUFAF5 | Ellen McDonagh Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.78 | NDUFAF5 | Ellen McDonagh Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.77 | MTFMT | Ellen McDonagh Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.76 | MTFMT | Ellen McDonagh Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.75 | MRE11 | Ellen McDonagh Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.74 | MRE11 | Ellen McDonagh Mode of inheritance for gene: MRE11 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.73 | MARS2 | Ellen McDonagh Phenotypes for gene: MARS2 were changed from to Spastic ataxia 3, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.72 | MARS2 | Ellen McDonagh Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.71 | LRPPRC | Ellen McDonagh Phenotypes for gene: LRPPRC were changed from to Leigh syndrome, French-Canadian type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.70 | LRPPRC | Ellen McDonagh Mode of inheritance for gene: LRPPRC was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.69 | KIF1C | Ellen McDonagh Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.68 | KIF1C | Ellen McDonagh Phenotypes for gene: KIF1C were changed from to Spastic ataxia 2, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.67 | KCTD17 | Ellen McDonagh Phenotypes for gene: KCTD17 were changed from to Dystonia 26, myoclonic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.66 | KCTD17 | Ellen McDonagh Mode of inheritance for gene: KCTD17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.65 | KCNMA1 | Ellen McDonagh Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.64 | KCNMA1 | Ellen McDonagh Mode of inheritance for gene: KCNMA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.63 | HSPD1 | Ellen McDonagh Phenotypes for gene: HSPD1 were changed from to Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.62 | HSPD1 | Ellen McDonagh Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.61 | HCFC1 | Ellen McDonagh Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.60 | HCFC1 | Ellen McDonagh Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.59 | GTPBP2 | Ellen McDonagh Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.58 | GTPBP2 | Ellen McDonagh Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.57 | GM2A | Ellen McDonagh Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.56 | GM2A | Ellen McDonagh Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.55 | GLB1 | Ellen McDonagh Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.54 | GJC2 | Ellen McDonagh Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.53 | GJC2 | Ellen McDonagh Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.52 | GJC2 | Ellen McDonagh Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.51 | GBA | Ellen McDonagh Phenotypes for gene: GBA were changed from to Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC; Gaucher disease, perinatal lethal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.50 | GBA | Ellen McDonagh Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.49 | FXN | Ellen McDonagh Phenotypes for gene: FXN were changed from to Friedreich ataxia; Friedreich ataxia with retained reflexes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.48 | FXN | Ellen McDonagh Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.47 | ECHS1 | Ellen McDonagh Phenotypes for gene: ECHS1 were changed from to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.46 | ECHS1 | Ellen McDonagh Mode of inheritance for gene: ECHS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.45 | DLD | Ellen McDonagh Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.44 | DLD | Ellen McDonagh Mode of inheritance for gene: DLD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.43 | COL6A3 | Ellen McDonagh Mode of inheritance for gene: COL6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.42 | COL6A3 | Ellen McDonagh Phenotypes for gene: COL6A3 were changed from to Dystonia 27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.41 | CLPB | Ellen McDonagh Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.40 | CLPB | Ellen McDonagh Mode of inheritance for gene: CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.39 | CLN5 | Ellen McDonagh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.38 | CLN5 | Ellen McDonagh Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.37 | CLN3 | Ellen McDonagh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.36 | CLN3 | Ellen McDonagh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.35 | CACNA1G | Ellen McDonagh Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087; Spinocerebellar ataxia 42 616795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.34 | CACNA1G | Ellen McDonagh Mode of inheritance for gene: CACNA1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.33 | C9orf72 | Ellen McDonagh Mode of inheritance for gene: C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.32 | C9orf72 | Ellen McDonagh Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.31 | ALDH18A1 | Ellen McDonagh Added comment: Comment on phenotypes: From OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.31 | ALDH18A1 | Ellen McDonagh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.30 | ALDH18A1 | Ellen McDonagh Added comment: Comment on mode of inheritance: Sourced from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.30 | ALDH18A1 | Ellen McDonagh Mode of inheritance for gene: ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.29 | AFG3L2 | Ellen McDonagh Phenotypes for gene: AFG3L2 were changed from Dystonia to Spastic ataxia 5, autosomal recessive 614487; Spinocerebellar ataxia 28 610246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.28 | AFG3L2 | Ellen McDonagh Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.27 | ACOX1 | Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.27 | ACOX1 | Ellen McDonagh Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.26 | ACOX1 | Ellen McDonagh Mode of inheritance for gene: ACOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.25 | ABAT | Ellen McDonagh Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency 613163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.24 | ABAT | Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.24 | ABAT | Ellen McDonagh Mode of inheritance for gene: ABAT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Classified gene: TPK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Added comment: Comment on list classification: Kept as Red, as only one patient reported with dystonia, and one Red review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Gene: tpk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.22 | TPK1 | Ellen McDonagh Publications for gene: TPK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.21 | RNASEH2A | Ellen McDonagh Classified gene: RNASEH2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.21 | RNASEH2A | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Requires clinical input to determine whether appropriate to include and promote to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.21 | RNASEH2A | Ellen McDonagh Gene: rnaseh2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.20 | PLP1 | Ellen McDonagh Classified gene: PLP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.20 | PLP1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.20 | PLP1 | Ellen McDonagh Gene: plp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.19 | AUH | Ellen McDonagh Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.18 | AUH | Ellen McDonagh Classified gene: AUH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.18 | AUH | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Clinical input required to decide whether this is appropriate to include and to make this Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.18 | AUH | Ellen McDonagh Gene: auh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.17 | SUOX | Ellen McDonagh Classified gene: SUOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.17 | SUOX | Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Green due to review from North Bristol NHS Trust (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.17 | SUOX | Ellen McDonagh Gene: suox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.16 | PCDH12 | Ellen McDonagh Classified gene: PCDH12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.16 | PCDH12 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to the review from North Bristol NHS Trust (South West GLH) - ataxia/dystonia can be a feature. More evidence or clinical review required for this to be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.16 | PCDH12 | Ellen McDonagh Gene: pcdh12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.15 | NKX2-1 | Ellen McDonagh Classified gene: NKX2-1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.15 | NKX2-1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to review by North Bristol NHS Trust (South West GLH) to suggest that this is a well described syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.15 | NKX2-1 | Ellen McDonagh Gene: nkx2-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.14 | L2HGDH | Ellen McDonagh Classified gene: L2HGDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.14 | L2HGDH | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Requires clinical input. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.14 | L2HGDH | Ellen McDonagh Gene: l2hgdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.13 | HPRT1 | Ellen McDonagh Classified gene: HPRT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.13 | HPRT1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Clinical input required to promote to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.13 | HPRT1 | Ellen McDonagh Gene: hprt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.12 | FOXG1 | Ellen McDonagh Classified gene: FOXG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.12 | FOXG1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.12 | FOXG1 | Ellen McDonagh Gene: foxg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.11 | ARX | Ellen McDonagh Classified gene: ARX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.11 | ARX | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review; for further clinical review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.11 | ARX | Ellen McDonagh Gene: arx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.10 | ACTB | Ellen McDonagh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 to ?Dystonia, juvenile-onset; Baraitser-Winter syndrome 1, 243310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.9 | ACTB | Ellen McDonagh Classified gene: ACTB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.9 | ACTB | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, as there has only been one variant reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.9 | ACTB | Ellen McDonagh Gene: actb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.8 | ACTB | Ellen McDonagh Publications for gene: ACTB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.7 | WDR45 |
Ellen McDonagh Source PanelApp was added to WDR45. Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes beta-propeller protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 5 300894 for gene: WDR45 Publications for gene WDR45 were changed from to 22892189; 23435086; 23176820 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDHA1 |
Ellen McDonagh Source PanelApp was added to PDHA1. Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 for gene: PDHA1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | OFD1 |
Ellen McDonagh Source PanelApp was added to OFD1. Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I for gene: OFD1 Publications for gene OFD1 were changed from to 22353940; 19800048 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA1 |
Ellen McDonagh Source PanelApp was added to NDUFA1. Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MAOA |
Ellen McDonagh Source PanelApp was added to MAOA. Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA Publications for gene MAOA were changed from to 8211186; 27830117; 24169519 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | RAB39B |
Ellen McDonagh Source PanelApp was added to RAB39B. Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Waisman syndrome 311510 for gene: RAB39B Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | BCAP31 |
Ellen McDonagh Source PanelApp was added to BCAP31. Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31 Publications for gene BCAP31 were changed from to 28332767; 24011989 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | AP1S2 |
Ellen McDonagh Source PanelApp was added to AP1S2. Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2 Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ZSWIM6 |
Ellen McDonagh Source PanelApp was added to ZSWIM6. Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene ZSWIM6 was changed from to Other - please provide details in the comments Added phenotypes Acromelic frontonasal dysostosis 603671 for gene: ZSWIM6 Publications for gene ZSWIM6 were changed from to 25105228 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | YY1 |
Ellen McDonagh Source PanelApp was added to YY1. Mode of inheritance for gene YY1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1 Publications for gene YY1 were changed from to 28575647 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | XPR1 |
Ellen McDonagh Source PanelApp was added to XPR1. Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 6 616413 for gene: XPR1 Publications for gene XPR1 were changed from to 25938945 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TUBA1A |
Ellen McDonagh Source PanelApp was added to TUBA1A. Mode of inheritance for gene TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Lissencephaly 3 611603 for gene: TUBA1A |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TOR1A |
Ellen McDonagh Source PanelApp was added to TOR1A. Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | THAP1 |
Ellen McDonagh Source PanelApp was added to THAP1. Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia 6, torsion, 602629; Dystonia for gene: THAP1 Publications for gene THAP1 were changed from to 20301334 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC20A2 |
Ellen McDonagh Source PanelApp was added to SLC20A2. Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 1 213600; Dystonia for gene: SLC20A2 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC1A3 |
Ellen McDonagh Source PanelApp was added to SLC1A3. Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EPISODIC ATAXIA, TYPE 6 for gene: SLC1A3 Publications for gene SLC1A3 were changed from to 19139306; 16116111; 27829685 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SCN8A |
Ellen McDonagh Source PanelApp was added to SCN8A. Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes paroxysmal kinesigenic dyskinesias; epilepsy for gene: SCN8A Publications for gene SCN8A were changed from to 26677014 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SCN1A |
Ellen McDonagh Source PanelApp was added to SCN1A. Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome for gene: SCN1A Publications for gene SCN1A were changed from to 19332696; 16054936 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PRRT2 |
Ellen McDonagh Source PanelApp was added to PRRT2. Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia for gene: PRRT2 Publications for gene PRRT2 were changed from to 22744660; 20301334; 22399141; 22120146; 22101681 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PRNP |
Ellen McDonagh Source PanelApp was added to PRNP. Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Cerebral amyloid angiopathy, PRNP-related 137440 for gene: PRNP |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PNKD |
Ellen McDonagh Source PanelApp was added to PNKD. Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD Publications for gene PNKD were changed from to 15496428; 20301334; 15262732; 15824259 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDGFRB |
Ellen McDonagh Source PanelApp was added to PDGFRB. Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia; Basal ganglia calcification, idiopathic, 4 615007 for gene: PDGFRB Publications for gene PDGFRB were changed from to 27984190; 23255827; 26129893; 25292412 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDGFB |
Ellen McDonagh Source PanelApp was added to PDGFB. Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB Publications for gene PDGFB were changed from to 26129893 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NKX2-1 |
Ellen McDonagh Source PanelApp was added to NKX2-1. Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700 for gene: NKX2-1 Publications for gene NKX2-1 were changed from to 24555207 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KCNQ3 |
Ellen McDonagh Source PanelApp was added to KCNQ3. Mode of inheritance for gene KCNQ3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KCNQ2 |
Ellen McDonagh Source PanelApp was added to KCNQ2. Mode of inheritance for gene KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myokymia, 121200; Dystonia for gene: KCNQ2 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KCNA1 |
Ellen McDonagh Source PanelApp was added to KCNA1. Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia for gene: KCNA1 Publications for gene KCNA1 were changed from to 17575281 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | IFIH1 |
Ellen McDonagh Source PanelApp was added to IFIH1. Mode of inheritance for gene IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Aicardi-Goutieres syndrome 7 615846 for gene: IFIH1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GNAL |
Ellen McDonagh Source PanelApp was added to GNAL. Added phenotypes Dystonia 25, 615073 for gene: GNAL Publications for gene GNAL were changed from to 25847575; 20301334; 24151159; 23222958; 26810727; 24535567; 27222887; 23759320; 25382112; 24408567; 26506956; 23449625; 24729450; 26725140; 26365774; 27123488; 27093447 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FOXP2 |
Ellen McDonagh Source PanelApp was added to FOXP2. Mode of inheritance for gene FOXP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Speech-language disorder-1 602081 for gene: FOXP2 Publications for gene FOXP2 were changed from to 15877281; 22434823; 11586359 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CACNB4 |
Ellen McDonagh Source PanelApp was added to CACNB4. Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 for gene: CACNB4 Publications for gene CACNB4 were changed from to 10762541 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CACNA1A |
Ellen McDonagh Source PanelApp was added to CACNA1A. Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A Publications for gene CACNA1A were changed from to 21734179; 17575281 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ATP1A3 |
Ellen McDonagh Source PanelApp was added to ATP1A3. Mode of inheritance for gene ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Rapid-Onset Dystonia-Parkinsonism; Dystonia-12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3 Publications for gene ATP1A3 were changed from to 22850527; 22842232; 20301334 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ATP1A2 |
Ellen McDonagh Source PanelApp was added to ATP1A2. Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290; Dystonia; migraine for gene: ATP1A2 Publications for gene ATP1A2 were changed from to 18056581; 12953268; 12539047 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ADCY5 |
Ellen McDonagh Source PanelApp was added to ADCY5. Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 for gene: ADCY5 Publications for gene ADCY5 were changed from to 11310626; 24700542 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SGCE |
Ellen McDonagh Source PanelApp was added to SGCE. Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Added phenotypes Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome for gene: SGCE Publications for gene SGCE were changed from to 20301334; 11528394; 12325078 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TUBB4A |
Ellen McDonagh Source PanelApp was added to TUBB4A. Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A Publications for gene TUBB4A were changed from to 27809427; 24850488; 23582646; 24526230 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MR1 |
Ellen McDonagh Source PanelApp was added to MR1. Mode of inheritance for gene MR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia; Paroxysmal/Episodic dystonia for gene: MR1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KMT2B |
Ellen McDonagh Source PanelApp was added to KMT2B. Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B Publications for gene KMT2B were changed from to 27992417 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GNAO1 |
Ellen McDonagh Source PanelApp was added to GNAO1. Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1 Publications for gene GNAO1 were changed from to 26060304; 27625011; 25966631; 27068059; 28357411 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GLI3 |
Ellen McDonagh Source PanelApp was added to GLI3. Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel for gene: GLI3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FTL |
Ellen McDonagh Source PanelApp was added to FTL. Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurodegeneration with brain iron accumulation 3 606159 for gene: FTL |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DCTN1 |
Ellen McDonagh Source PanelApp was added to DCTN1. Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CHMP2B |
Ellen McDonagh Source PanelApp was added to CHMP2B. Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia; familial frontotemporal lobar degeneration (ALS17) for gene: CHMP2B |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ANO3 |
Ellen McDonagh Source PanelApp was added to ANO3. Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3 Publications for gene ANO3 were changed from to 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 27392807; 24442708 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MT-ND6 |
Ellen McDonagh Source PanelApp was added to MT-ND6. Added phenotypes Leber Optic Atrophy And Dystonia for gene: MT-ND6 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ZNF423 |
Ellen McDonagh Source PanelApp was added to ZNF423. Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 19; Nephronophthisis 14; Nephronophthisis 14, 614844; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect for gene: ZNF423 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SPR |
Ellen McDonagh Source PanelApp was added to SPR. Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC6A5 |
Ellen McDonagh Source PanelApp was added to SLC6A5. Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5 Publications for gene SLC6A5 were changed from to 16751771 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC2A1 |
Ellen McDonagh Source PanelApp was added to SLC2A1. Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1 Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GLRA1 |
Ellen McDonagh Source PanelApp was added to GLRA1. Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia, hereditary 1, 149400 for gene: GLRA1 Publications for gene GLRA1 were changed from to 20301437 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GCH1 |
Ellen McDonagh Source PanelApp was added to GCH1. Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; GTP-cyclohydrolase deficiency for gene: GCH1 Publications for gene GCH1 were changed from to 3762960; 8163996; 7730309; 10987649; 942621; 9667588; 3822637; 7874165; 17111153; 6734669; 1899474; 945938; 3400489; 7869202; 10208576; 20301334; 27830117; 12552057; 20301681; 10732814; 12084887; 3041760; 16908750; 11346370; 11113234; 2296384; 15753436 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | C19orf12 |
Ellen McDonagh Source PanelApp was added to C19orf12. Mode of inheritance for gene C19orf12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia for gene: C19orf12 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | WDR73 |
Ellen McDonagh Source PanelApp was added to WDR73. Mode of inheritance for gene WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Galloway-Mowat syndrome 1, 251300 for gene: WDR73 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | VPS13B |
Ellen McDonagh Source PanelApp was added to VPS13B. Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cohen syndrome, 216550; COHEN SYNDROME for gene: VPS13B |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | VPS13A |
Ellen McDonagh Source PanelApp was added to VPS13A. Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Choreoacanthocytosis 200150; complex parkinsonism for gene: VPS13A Publications for gene VPS13A were changed from to 14663054; 11381253; 11381254 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | VAC14 |
Ellen McDonagh Source PanelApp was added to VAC14. Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Striatonigral degeneration, childhood-onset 617054 for gene: VAC14 Publications for gene VAC14 were changed from to 17956977; 27292112; 19037259 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TXNDC15 |
Ellen McDonagh Source PanelApp was added to TXNDC15. Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15 Publications for gene TXNDC15 were changed from to 27894351 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM67 |
Ellen McDonagh Source PanelApp was added to TMEM67. Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67 Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM237 |
Ellen McDonagh Source PanelApp was added to TMEM237. Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 14; Joubert syndrome; Joubert syndrome with oculorenal defect for gene: TMEM237 Publications for gene TMEM237 were changed from to 20301500; 22152675 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM231 |
Ellen McDonagh Source PanelApp was added to TMEM231. Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 20; Meckel syndrome 11, 615397; Joubert syndrome 20, 614970; Meckel syndrome; Joubert syndrome with oculorenal defect for gene: TMEM231 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM216 |
Ellen McDonagh Source PanelApp was added to TMEM216. Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome 2; Joubert syndrome with oculorenal defect; Meckel syndrome for gene: TMEM216 Publications for gene TMEM216 were changed from to 22282472; 20512146; 20036350 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM138 |
Ellen McDonagh Source PanelApp was added to TMEM138. Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 16; Joubert syndrome with oculorenal defect for gene: TMEM138 Publications for gene TMEM138 were changed from to 22282472 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM107 |
Ellen McDonagh Source PanelApp was added to TMEM107. Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Orofaciodigital syndrome XVI 617563; ?Joubert syndrome 29 617562; Meckel syndrome 13 617562 for gene: TMEM107 Publications for gene TMEM107 were changed from to 22698544; 26595381; 26123494; 26518474 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TH |
Ellen McDonagh Source PanelApp was added to TH. Mode of inheritance for gene TH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes DOPA-responsive dystonia; Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; Segawa syndrome; paediatric form of dopa responsive dystonia for gene: TH Publications for gene TH were changed from to 27830117; 20301334; 8528210; 21937992; 9732974; 9703425; 8817341; 17696123; 7814018; 11246459; 10585338 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TCTN3 |
Ellen McDonagh Source PanelApp was added to TCTN3. Mode of inheritance for gene TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel-Gruber; Joubert syndrome; Joubert syndrome 18; Orofaciodigital syndrome IV; Mohr-Majewski syndrome for gene: TCTN3 Publications for gene TCTN3 were changed from to 22883145; 25118024 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TCTN2 |
Ellen McDonagh Source PanelApp was added to TCTN2. Mode of inheritance for gene TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel syndrome; Joubert syndrome, Meckel-Gruber syndrome; Joubert syndrome 24 for gene: TCTN2 Publications for gene TCTN2 were changed from to 21565611; 25118024 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TCTN1 |
Ellen McDonagh Source PanelApp was added to TCTN1. Mode of inheritance for gene TCTN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome for gene: TCTN1 Publications for gene TCTN1 were changed from to 20301500; 22693042; 28631893; 21725307; 26477546; 26489806 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SYNJ1 |
Ellen McDonagh Source PanelApp was added to SYNJ1. Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 20, early-onset; juvenile Parkinsonism for gene: SYNJ1 Publications for gene SYNJ1 were changed from to 27496670; 23804577; 23804563 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SURF1 |
Ellen McDonagh Source PanelApp was added to SURF1. Mode of inheritance for gene SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SUFU |
Ellen McDonagh Source PanelApp was added to SUFU. Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 32, 617757 for gene: SUFU |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SUCLG1 |
Ellen McDonagh Source PanelApp was added to SUCLG1. Mode of inheritance for gene SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SUCLA2 |
Ellen McDonagh Source PanelApp was added to SUCLA2. Mode of inheritance for gene SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia for gene: SUCLA2 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC6A3 |
Ellen McDonagh Source PanelApp was added to SLC6A3. Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3 Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC39A14 |
Ellen McDonagh Source PanelApp was added to SLC39A14. Mode of inheritance for gene SLC39A14 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14 Publications for gene SLC39A14 were changed from to 27231142 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC30A10 |
Ellen McDonagh Source PanelApp was added to SLC30A10. Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 for gene: SLC30A10 Publications for gene SLC30A10 were changed from to 22934317; 22341972; 25778823; 22341971; 22926781 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC25A19 |
Ellen McDonagh Source PanelApp was added to SLC25A19. Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microcephaly, Amish type 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 for gene: SLC25A19 Publications for gene SLC25A19 were changed from to 19798730; 12185364; 17035501 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC19A3 |
Ellen McDonagh Source PanelApp was added to SLC19A3. Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 for gene: SLC19A3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC18A2 |
Ellen McDonagh Source PanelApp was added to SLC18A2. Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency for gene: SLC18A2 Publications for gene SLC18A2 were changed from to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SERAC1 |
Ellen McDonagh Source PanelApp was added to SERAC1. Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Lesions in the basal ganglia; MEGDEL syndrome; MEGDHEL syndrome; Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1 Publications for gene SERAC1 were changed from to 27186703; 16527507; 28482397; 28778788; 29205472; 22683713; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | SDHA |
Ellen McDonagh Source PanelApp was added to SDHA. Mode of inheritance for gene SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | RPGRIP1L |
Ellen McDonagh Source PanelApp was added to RPGRIP1L. Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | QDPR |
Ellen McDonagh Source PanelApp was added to QDPR. Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia for gene: QDPR Publications for gene QDPR were changed from to 11746132; 27830117; 2785251; 16917893; 11153907; 49470; 2116088; 7627180; 317358; 53532; 27604308; 10029353 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PTS |
Ellen McDonagh Source PanelApp was added to PTS. Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PRKRA |
Ellen McDonagh Source PanelApp was added to PRKRA. Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia for gene: PRKRA Publications for gene PRKRA were changed from to 22842711; 25737287; 20301334; 18420150; 18243799; 26990861; 25914261; 24142417; 25142429 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PRKN |
Ellen McDonagh Source PanelApp was added to PRKN. Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PMM2 |
Ellen McDonagh Source PanelApp was added to PMM2. Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2 Publications for gene PMM2 were changed from to 9140401 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PLA2G6 |
Ellen McDonagh Source PanelApp was added to PLA2G6. Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 14, autosomal recessive 612953; Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; PLA2G6-associated neurodegeneration for gene: PLA2G6 Publications for gene PLA2G6 were changed from to 16783378; 18799783; 18570303 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PINK1 |
Ellen McDonagh Source PanelApp was added to PINK1. Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 6, early onset; Dystonia for gene: PINK1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDP1 |
Ellen McDonagh Source PanelApp was added to PDP1. Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 for gene: PDP1 Publications for gene PDP1 were changed from to 19184109; 15855260 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDE10A |
Ellen McDonagh Source PanelApp was added to PDE10A. Mode of inheritance for gene PDE10A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 for gene: PDE10A Publications for gene PDE10A were changed from to 27058447; 27058446 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PCCB |
Ellen McDonagh Source PanelApp was added to PCCB. Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Propionicacidemia 606054 for gene: PCCB |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PCCA |
Ellen McDonagh Source PanelApp was added to PCCA. Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Propionicacidemia 606054 for gene: PCCA Publications for gene PCCA were changed from to 6790853; 15235904 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PARK7 |
Ellen McDonagh Source PanelApp was added to PARK7. Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PANK2 |
Ellen McDonagh Source PanelApp was added to PANK2. Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; pantothenate kinase-associated neurodegeneration for gene: PANK2 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | OCLN |
Ellen McDonagh Source PanelApp was added to OCLN. Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 for gene: OCLN Publications for gene OCLN were changed from to 20727516 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NUP62 |
Ellen McDonagh Source PanelApp was added to NUP62. Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62 Publications for gene NUP62 were changed from to 16786527; 12374138; 14718703 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NPHP3 |
Ellen McDonagh Source PanelApp was added to NPHP3. Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nephronophthisis 3, 604387; Senior-Loken syndrome; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia for gene: NPHP3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NPHP1 |
Ellen McDonagh Source PanelApp was added to NPHP1. Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 4; 609583 Nephronophthisis 1, juvenile; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; Nephronophthisis for gene: NPHP1 Publications for gene NPHP1 were changed from to 15689444; 15138899; 22982934 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NKX6-2 |
Ellen McDonagh Source PanelApp was added to NKX6-2. Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2 Publications for gene NKX6-2 were changed from to 15601927; 28575651 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFV1 |
Ellen McDonagh Source PanelApp was added to NDUFV1. Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, 252010 for gene: NDUFV1 Publications for gene NDUFV1 were changed from to 10080174; 26345448 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFS8 |
Ellen McDonagh Source PanelApp was added to NDUFS8. Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 for gene: NDUFS8 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFS7 |
Ellen McDonagh Source PanelApp was added to NDUFS7. Mode of inheritance for gene NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 for gene: NDUFS7 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFS4 |
Ellen McDonagh Source PanelApp was added to NDUFS4. Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome 256000 for gene: NDUFS4 Publications for gene NDUFS4 were changed from to 24020637 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFS3 |
Ellen McDonagh Source PanelApp was added to NDUFS3. Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFS3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFAF6 |
Ellen McDonagh Source PanelApp was added to NDUFAF6. Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from to 27623250; 26741492; 18614015 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFAF2 |
Ellen McDonagh Source PanelApp was added to NDUFAF2. Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2 Publications for gene NDUFAF2 were changed from to 16200211; 20818383; 20571988 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA9 |
Ellen McDonagh Source PanelApp was added to NDUFA9. Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 22114105 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA2 |
Ellen McDonagh Source PanelApp was added to NDUFA2. Publications for gene NDUFA2 were changed from to 18513682 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA12 |
Ellen McDonagh Source PanelApp was added to NDUFA12. Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 for gene: NDUFA12 Publications for gene NDUFA12 were changed from to 21617257 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA10 |
Ellen McDonagh Source PanelApp was added to NDUFA10. Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome 256000 for gene: NDUFA10 Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MUT |
Ellen McDonagh Source PanelApp was added to MUT. Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Methylmalonic aciduria, mut(0) type 251000 for gene: MUT |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MKS1 |
Ellen McDonagh Source PanelApp was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1 Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MECR |
Ellen McDonagh Source PanelApp was added to MECR. Mode of inheritance for gene MECR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR Publications for gene MECR were changed from to 27817865 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KIF7 |
Ellen McDonagh Source PanelApp was added to KIF7. Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7 Publications for gene KIF7 were changed from to 21633164 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KIAA0586 |
Ellen McDonagh Source PanelApp was added to KIAA0586. Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome; Joubert syndrome 23; Short-rib dysplasia 14 with polydactyly for gene: KIAA0586 Publications for gene KIAA0586 were changed from to 26096313 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | IVD |
Ellen McDonagh Source PanelApp was added to IVD. Mode of inheritance for gene IVD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isovaleric acidemia 243500 for gene: IVD |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ISG15 |
Ellen McDonagh Source PanelApp was added to ISG15. Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 38 616126 for gene: ISG15 Publications for gene ISG15 were changed from to 22859821; 25307056 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | INPP5E |
Ellen McDonagh Source PanelApp was added to INPP5E. Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome; Joubert syndrome 1 for gene: INPP5E Publications for gene INPP5E were changed from to 26748598; 23386033 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ICK |
Ellen McDonagh Source PanelApp was added to ICK. Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) for gene: ICK Publications for gene ICK were changed from to 27466187; 19185282; 27069622 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | HYLS1 |
Ellen McDonagh Source PanelApp was added to HYLS1. Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome; Hydrolethalus syndrome, 236680 for gene: HYLS1 Publications for gene HYLS1 were changed from to 18648327 - Hydrolethalus syndrome; 19656802 - impairment in ciligenesis; 15843405 - Hydrolethalus syndrome; 26830932 - report in two siblings with Joubert syndrome |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | HTRA2 |
Ellen McDonagh Source PanelApp was added to HTRA2. Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type VIII 617248 for gene: HTRA2 Publications for gene HTRA2 were changed from to 27208207; 27696117 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | HPCA |
Ellen McDonagh Source PanelApp was added to HPCA. Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes adolescence-onset segmental dystonia; generalized dystonia with additional neurological features; Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia for gene: HPCA Publications for gene HPCA were changed from to 25799108; 30145809 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | HIBCH |
Ellen McDonagh Source PanelApp was added to HIBCH. Mode of inheritance for gene HIBCH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 for gene: HIBCH |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GLRB |
Ellen McDonagh Source PanelApp was added to GLRB. Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB Publications for gene GLRB were changed from to 21391991; 23238346; 11929858 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GCDH |
Ellen McDonagh Source PanelApp was added to GCDH. Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia for gene: GCDH Publications for gene GCDH were changed from to 8900227; 11174631; 8900228; 10699052; 7795610 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FOLR1 |
Ellen McDonagh Source PanelApp was added to FOLR1. Mode of inheritance for gene FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068; Folate receptor alpha deficiency for gene: FOLR1 Publications for gene FOLR1 were changed from to 27830117; 21937992; 19732866; 2044715 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FBXO7 |
Ellen McDonagh Source PanelApp was added to FBXO7. Mode of inheritance for gene FBXO7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes juvenile parkinsonism; Dystonia for gene: FBXO7 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FA2H |
Ellen McDonagh Source PanelApp was added to FA2H. Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive 612319 for gene: FA2H Publications for gene FA2H were changed from to 19068277 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | EVC2 |
Ellen McDonagh Source PanelApp was added to EVC2. Mode of inheritance for gene EVC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | EVC |
Ellen McDonagh Source PanelApp was added to EVC. Mode of inheritance for gene EVC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 for gene: EVC |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ETHE1 |
Ellen McDonagh Source PanelApp was added to ETHE1. Mode of inheritance for gene ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ethylmalonic encephalopathy 602473 for gene: ETHE1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DNAJC12 |
Ellen McDonagh Source PanelApp was added to DNAJC12. Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12 Publications for gene DNAJC12 were changed from to 28132689 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DLAT |
Ellen McDonagh Source PanelApp was added to DLAT. Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pyruvate dehydrogenase E2 deficiency 245348; Dystonia for gene: DLAT Publications for gene DLAT were changed from to 16049940; 19891062 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DHFR |
Ellen McDonagh Source PanelApp was added to DHFR. Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency for gene: DHFR Publications for gene DHFR were changed from to 21310277; 27830117; 21310276; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DHCR7 |
Ellen McDonagh Source PanelApp was added to DHCR7. Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Smith-Lemli-Opitz syndrome 270400 for gene: DHCR7 Publications for gene DHCR7 were changed from to 9634533 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DDX59 |
Ellen McDonagh Source PanelApp was added to DDX59. Mode of inheritance for gene DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59 Publications for gene DDX59 were changed from to 29127725; 28711741; 23972372 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DDC |
Ellen McDonagh Source PanelApp was added to DDC. Mode of inheritance for gene DDC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia for gene: DDC Publications for gene DDC were changed from to 27830117; 27604308; 24816252 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DCAF17 |
Ellen McDonagh Source PanelApp was added to DCAF17. Mode of inheritance for gene DCAF17 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Woodhouse-Sakati syndrome for gene: DCAF17 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | DCAF10 | Ellen McDonagh Source PanelApp was added to DCAF10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.7 | DBH |
Ellen McDonagh Source PanelApp was added to DBH. Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dopamine beta-hydroxylase deficiency, 223360 for gene: DBH Publications for gene DBH were changed from to 27778639; 27830117; 27604308 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CSTB |
Ellen McDonagh Source PanelApp was added to CSTB. Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB Publications for gene CSTB were changed from to 26843564 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CSPP1 |
Ellen McDonagh Source PanelApp was added to CSPP1. Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel syndrome; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 21 for gene: CSPP1 Publications for gene CSPP1 were changed from to 24360803; 24360808; 24360807 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CRB2 |
Ellen McDonagh Source PanelApp was added to CRB2. Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ventriculomegaly with cystic kidney disease 219730 for gene: CRB2 Publications for gene CRB2 were changed from to 25557780 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CP |
Ellen McDonagh Source PanelApp was added to CP. Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar ataxia 604290; Dystonia; [Hypoceruloplasminemia, hereditary] 604290; Aceruloplasminemia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 for gene: CP |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | COX15 |
Ellen McDonagh Source PanelApp was added to COX15. Mode of inheritance for gene COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | COX10 |
Ellen McDonagh Source PanelApp was added to COX10. Mode of inheritance for gene COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex IV deficiency, 220110; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 for gene: COX10 Publications for gene COX10 were changed from to 10767350 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | COASY |
Ellen McDonagh Source PanelApp was added to COASY. Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodegeneration with brain iron accumulation 6 615643; COASY protein-associated neurodegeneration for gene: COASY Publications for gene COASY were changed from to 27021474; 24360804 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CEP41 |
Ellen McDonagh Source PanelApp was added to CEP41. Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 15 for gene: CEP41 Publications for gene CEP41 were changed from to 22246503 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CEP290 |
Ellen McDonagh Source PanelApp was added to CEP290. Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290 Publications for gene CEP290 were changed from to 18327255; 20690115 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CEP104 |
Ellen McDonagh Source PanelApp was added to CEP104. Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 25; Joubert syndrome 25, 616781 for gene: CEP104 Publications for gene CEP104 were changed from to 26477546 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CENPF |
Ellen McDonagh Source PanelApp was added to CENPF. Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome for gene: CENPF Publications for gene CENPF were changed from to 26820108 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CC2D2A |
Ellen McDonagh Source PanelApp was added to CC2D2A. Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome; COACH syndrome; Joubert syndrome 9 for gene: CC2D2A |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | C5orf42 |
Ellen McDonagh Source PanelApp was added to C5orf42. Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 17; Oral-facial-digital syndrome type VI; Joubert syndrome for gene: C5orf42 Publications for gene C5orf42 were changed from to 22425360; 22693042; 25920555 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | C2CD3 |
Ellen McDonagh Source PanelApp was added to C2CD3. Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; short-rib polydactyly syndromes (SRPS; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) for gene: C2CD3 Publications for gene C2CD3 were changed from to 26044959; 27094867; 24997988 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | BCS1L |
Ellen McDonagh Source PanelApp was added to BCS1L. Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome, 256000; Bjornstad syndrome, 262000; Mitochondrial complex III deficiency, nuclear type 1, 124000 for gene: BCS1L |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | B9D2 |
Ellen McDonagh Source PanelApp was added to B9D2. Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies for gene: B9D2 Publications for gene B9D2 were changed from to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ATP7B |
Ellen McDonagh Source PanelApp was added to ATP7B. Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Wilson disease 277900; Dystonia for gene: ATP7B Publications for gene ATP7B were changed from to 20301685 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ATP13A2 |
Ellen McDonagh Source PanelApp was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kufor-Rakeb syndrome 606693; Parkinson disease; Dystonia for gene: ATP13A2 Publications for gene ATP13A2 were changed from to 21060012 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ATM |
Ellen McDonagh Source PanelApp was added to ATM. Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ARL13B |
Ellen McDonagh Source PanelApp was added to ARL13B. Mode of inheritance for gene ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 8 for gene: ARL13B Publications for gene ARL13B were changed from to 25138100; 18674751 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | APTX |
Ellen McDonagh Source PanelApp was added to APTX. Mode of inheritance for gene APTX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia for gene: APTX |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | AHI1 |
Ellen McDonagh Source PanelApp was added to AHI1. Mode of inheritance for gene AHI1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3. for gene: AHI1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ADAR |
Ellen McDonagh Source PanelApp was added to ADAR. Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010; dystonia for gene: ADAR Publications for gene ADAR were changed from to 28139822; 23001123 |
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Childhood onset dystonia, chorea or related movement disorder v0.3 | Ellen McDonagh List of related panels changed from to R57 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.2 |
Ellen McDonagh Panel status changed from internal to public Panel types changed to GMS Rare Disease |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | VPS37A |
Ellen McDonagh gene: VPS37A was added gene: VPS37A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TREM2 |
Ellen McDonagh gene: TREM2 was added gene: TREM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: TREM2 was set to Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SLC46A1 |
Ellen McDonagh Source South West GLH was added to SLC46A1. Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SDHAF1 |
Ellen McDonagh Source South West GLH was added to SDHAF1. Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SCP2 |
Ellen McDonagh Source South West GLH was added to SCP2. Mode of inheritance for gene SCP2 was changed from to Unknown Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SCN9A |
Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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; Erythermalgia, Primary; Erythermalgia, primary, 133020; Hereditary Sensory Neuropathy; Insensitivity to pain, channelopathy-associated, 243000; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; Febrile seizures, familial, 3B, 613863; Paroxysmal Extreme Pain Disorder |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PTEN |
Ellen McDonagh gene: PTEN was added gene: PTEN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PTEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTEN were set to Lhermitte-Duclos syndrome, 158350; Cowden syndrome 1, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PSEN1 |
Ellen McDonagh gene: PSEN1 was added gene: PSEN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PSEN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, 607822; Pick disease, 172700; Dementia, frontotemporal 600274; Cardiomyopathy, dilated, 1U, 613694 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PNPT1 |
Ellen McDonagh Source South West GLH was added to PNPT1. Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PITX3 |
Ellen McDonagh gene: PITX3 was added gene: PITX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PDX1 |
Ellen McDonagh gene: PDX1 was added gene: PDX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1 260370; MODY, type IV 606392 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PDHX |
Ellen McDonagh Source South West GLH was added to PDHX. Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PARK7 |
Ellen McDonagh gene: PARK7 was added gene: PARK7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile 271930 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFS3 |
Ellen McDonagh Source South West GLH was added to NDUFS3. Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFA9 |
Ellen McDonagh gene: NDUFA9 was added gene: NDUFA9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFA2 |
Ellen McDonagh Source South West GLH was added to NDUFA2. Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFA12 |
Ellen McDonagh gene: NDUFA12 was added gene: NDUFA12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | MR1 |
Ellen McDonagh gene: MR1 was added gene: MR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: MR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | MPV17 |
Ellen McDonagh Source South West GLH was added to MPV17. Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | MMADHC |
Ellen McDonagh Source South West GLH was added to MMADHC. Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | MCOLN1 |
Ellen McDonagh Source South West GLH was added to MCOLN1. Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | MAT1A |
Ellen McDonagh Source South West GLH was added to MAT1A. Mode of inheritance for gene MAT1A was changed from to Unknown Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | KCNK18 |
Ellen McDonagh Source South West GLH was added to KCNK18. Mode of inheritance for gene KCNK18 was changed from to Unknown Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | HTT |
Ellen McDonagh gene: HTT was added gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | GFAP |
Ellen McDonagh Source South West GLH was added to GFAP. Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Alexander disease, 203450 for gene: GFAP |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | GAMT |
Ellen McDonagh Source South West GLH was added to GAMT. Mode of inheritance for gene GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | FOXRED1 |
Ellen McDonagh Source South West GLH was added to FOXRED1. Mode of inheritance for gene FOXRED1 was changed from to Unknown Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | FASTKD2 |
Ellen McDonagh Source South West GLH was added to FASTKD2. Mode of inheritance for gene FASTKD2 was changed from to Unknown Added phenotypes Dystonia for gene: FASTKD2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ERCC6 was set to Unknown Phenotypes for gene: ERCC6 were set to Dystonia |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | EARS2 |
Ellen McDonagh Source South West GLH was added to EARS2. Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | DRD5 |
Ellen McDonagh gene: DRD5 was added gene: DRD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: DRD5 was set to Unknown Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | DRD2 |
Ellen McDonagh gene: DRD2 was added gene: DRD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: DRD2 was set to Unknown Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | DCTN1 |
Ellen McDonagh gene: DCTN1 was added gene: DCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | DCAF10 |
Ellen McDonagh gene: DCAF10 was added gene: DCAF10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | CIZ1 |
Ellen McDonagh Source South West GLH was added to CIZ1. Mode of inheritance for gene CIZ1 was changed from to Unknown Added phenotypes Dystonia 23, 614860 for gene: CIZ1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | BDNF |
Ellen McDonagh gene: BDNF was added gene: BDNF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital, 209880 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ATN1 |
Ellen McDonagh gene: ATN1 was added gene: ATN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | AIFM1 |
Ellen McDonagh Source South West GLH was added to AIFM1. Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | AFG3L2 |
Ellen McDonagh Source South West GLH was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from to Unknown Added phenotypes Dystonia for gene: AFG3L2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TREX1 |
Ellen McDonagh Source South West GLH was added to TREX1. Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TPK1 |
Ellen McDonagh Source South West GLH was added to TPK1. Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TIMM8A |
Ellen McDonagh Source South West GLH was added to TIMM8A. Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TAF1 |
Ellen McDonagh Source South West GLH was added to TAF1. Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SAMHD1 |
Ellen McDonagh Source South West GLH was added to SAMHD1. Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | RNASEH2C |
Ellen McDonagh Source South West GLH was added to RNASEH2C. Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | RNASEH2B |
Ellen McDonagh Source South West GLH was added to RNASEH2B. Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | RNASEH2A |
Ellen McDonagh Source South West GLH was added to RNASEH2A. Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PCDH12 |
Ellen McDonagh gene: PCDH12 was added gene: PCDH12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH12 were set to perithalamic hyperechogenicity; midbrain abnormalities; microcephaly; hypothalamic abnormalities; intellectual disability; periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280; epilepsy |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NPC2 |
Ellen McDonagh Source South West GLH was added to NPC2. Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | L2HGDH |
Ellen McDonagh Source South West GLH was added to L2HGDH. Mode of inheritance for gene L2HGDH was changed from to Unknown Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | HPRT1 |
Ellen McDonagh Source South West GLH was added to HPRT1. Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | HEXA |
Ellen McDonagh Source South West GLH was added to HEXA. Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | FOXG1 |
Ellen McDonagh gene: FOXG1 was added gene: FOXG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant, 613454 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | CYP27A1 |
Ellen McDonagh Source South West GLH was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to Unknown Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | AUH |
Ellen McDonagh Source South West GLH was added to AUH. Mode of inheritance for gene AUH was changed from to Unknown Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ARX |
Ellen McDonagh gene: ARX was added gene: ARX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ARX 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: ARX were set to Partington Syndrome, 300382 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ARSA |
Ellen McDonagh Source South West GLH was added to ARSA. Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | SUOX |
Ellen McDonagh Source South West GLH was added to SUOX. Mode of inheritance for gene SUOX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NKX2-1 |
Ellen McDonagh gene: NKX2-1 was added gene: NKX2-1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | GNAL |
Ellen McDonagh Source South West GLH was added to GNAL. Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia 25, 615073 for gene: GNAL |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ACTB |
Ellen McDonagh gene: ACTB was added gene: ACTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ZNF423 |
Ellen McDonagh gene: ZNF423 was added gene: ZNF423 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ZNF423 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | YARS2 |
Ellen McDonagh gene: YARS2 was added gene: YARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: YARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | XYLT2 |
Ellen McDonagh gene: XYLT2 was added gene: XYLT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XYLT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | XYLT1 |
Ellen McDonagh gene: XYLT1 was added gene: XYLT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XYLT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | XPR1 |
Ellen McDonagh gene: XPR1 was added gene: XPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XPR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | XPNPEP3 |
Ellen McDonagh gene: XPNPEP3 was added gene: XPNPEP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XPNPEP3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | XDH |
Ellen McDonagh gene: XDH was added gene: XDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR81 |
Ellen McDonagh gene: WDR81 was added gene: WDR81 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDR81 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR35 |
Ellen McDonagh gene: WDR35 was added gene: WDR35 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDR35 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR34 |
Ellen McDonagh gene: WDR34 was added gene: WDR34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDR34 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR19 |
Ellen McDonagh gene: WDR19 was added gene: WDR19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDR19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDPCP |
Ellen McDonagh gene: WDPCP was added gene: WDPCP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDPCP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VRK1 |
Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VRK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VPS53 |
Ellen McDonagh gene: VPS53 was added gene: VPS53 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VPS53 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VPS33B |
Ellen McDonagh gene: VPS33B was added gene: VPS33B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VPS33B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VPS13B |
Ellen McDonagh gene: VPS13B was added gene: VPS13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VPS13B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VLDLR |
Ellen McDonagh gene: VLDLR was added gene: VLDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VLDLR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VKORC1 |
Ellen McDonagh gene: VKORC1 was added gene: VKORC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VKORC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VIPAS39 |
Ellen McDonagh gene: VIPAS39 was added gene: VIPAS39 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VIPAS39 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VARS2 |
Ellen McDonagh gene: VARS2 was added gene: VARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: VARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UROS |
Ellen McDonagh gene: UROS was added gene: UROS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UROS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UROD |
Ellen McDonagh gene: UROD was added gene: UROD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UROD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UROC1 |
Ellen McDonagh gene: UROC1 was added gene: UROC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UROC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UQCRQ |
Ellen McDonagh gene: UQCRQ was added gene: UQCRQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UQCRQ was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UQCRB |
Ellen McDonagh gene: UQCRB was added gene: UQCRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UQCRB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UMPS |
Ellen McDonagh gene: UMPS was added gene: UMPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UMPS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UMOD |
Ellen McDonagh gene: UMOD was added gene: UMOD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UMOD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | UGT1A1 |
Ellen McDonagh gene: UGT1A1 was added gene: UGT1A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: UGT1A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TYMP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TXNDC15 |
Ellen McDonagh gene: TXNDC15 was added gene: TXNDC15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TXNDC15 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TWNK |
Ellen McDonagh gene: TWNK was added gene: TWNK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TWNK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUSC3 |
Ellen McDonagh gene: TUSC3 was added gene: TUSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUSC3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUFM |
Ellen McDonagh gene: TUFM was added gene: TUFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUFM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUBB3 |
Ellen McDonagh gene: TUBB3 was added gene: TUBB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUBB3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUBB2B |
Ellen McDonagh gene: TUBB2B was added gene: TUBB2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUBB2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUBA8 |
Ellen McDonagh gene: TUBA8 was added gene: TUBA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUBA8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUBA1A |
Ellen McDonagh gene: TUBA1A was added gene: TUBA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TUBA1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTPA |
Ellen McDonagh gene: TTPA was added gene: TTPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TTPA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTC8 |
Ellen McDonagh gene: TTC8 was added gene: TTC8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TTC8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTC37 |
Ellen McDonagh gene: TTC37 was added gene: TTC37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TTC37 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTC21B |
Ellen McDonagh gene: TTC21B was added gene: TTC21B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TTC21B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTC19 |
Ellen McDonagh gene: TTC19 was added gene: TTC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TTC19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TSFM |
Ellen McDonagh gene: TSFM was added gene: TSFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TSFM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TSEN54 |
Ellen McDonagh gene: TSEN54 was added gene: TSEN54 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TSEN54 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TSEN34 |
Ellen McDonagh gene: TSEN34 was added gene: TSEN34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TSEN34 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TSEN2 |
Ellen McDonagh gene: TSEN2 was added gene: TSEN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TSEN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TRPM6 |
Ellen McDonagh gene: TRPM6 was added gene: TRPM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TRPM6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TRNT1 |
Ellen McDonagh gene: TRNT1 was added gene: TRNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TRNT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TRMU |
Ellen McDonagh gene: TRMU was added gene: TRMU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TRMU was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TRIM37 |
Ellen McDonagh gene: TRIM37 was added gene: TRIM37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TRIM37 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TRAF3IP1 |
Ellen McDonagh gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TRAF3IP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TPK1 |
Ellen McDonagh gene: TPK1 was added gene: TPK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TPK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TOE1 |
Ellen McDonagh gene: TOE1 was added gene: TOE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TOE1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM70 |
Ellen McDonagh gene: TMEM70 was added gene: TMEM70 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM70 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM67 |
Ellen McDonagh gene: TMEM67 was added gene: TMEM67 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM67 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM5 |
Ellen McDonagh gene: TMEM5 was added gene: TMEM5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM237 |
Ellen McDonagh gene: TMEM237 was added gene: TMEM237 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM237 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM231 |
Ellen McDonagh gene: TMEM231 was added gene: TMEM231 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM231 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM216 |
Ellen McDonagh gene: TMEM216 was added gene: TMEM216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM216 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM165 |
Ellen McDonagh gene: TMEM165 was added gene: TMEM165 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM165 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM138 |
Ellen McDonagh gene: TMEM138 was added gene: TMEM138 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM138 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM126B |
Ellen McDonagh gene: TMEM126B was added gene: TMEM126B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM126B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM107 |
Ellen McDonagh gene: TMEM107 was added gene: TMEM107 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM107 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TK2 |
Ellen McDonagh gene: TK2 was added gene: TK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TK2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TINF2 |
Ellen McDonagh gene: TINF2 was added gene: TINF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TINF2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TIMM50 |
Ellen McDonagh gene: TIMM50 was added gene: TIMM50 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TIMM50 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TFR2 |
Ellen McDonagh gene: TFR2 was added gene: TFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TFR2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TERT |
Ellen McDonagh gene: TERT was added gene: TERT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TERT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TCTN3 |
Ellen McDonagh gene: TCTN3 was added gene: TCTN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCTN3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TCTN2 |
Ellen McDonagh gene: TCTN2 was added gene: TCTN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCTN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TCTN1 |
Ellen McDonagh gene: TCTN1 was added gene: TCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCTN1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TCTEX1D2 |
Ellen McDonagh gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCTEX1D2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TAZ |
Ellen McDonagh gene: TAZ was added gene: TAZ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TAZ was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TAT |
Ellen McDonagh gene: TAT was added gene: TAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TARS2 |
Ellen McDonagh gene: TARS2 was added gene: TARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TANGO2 |
Ellen McDonagh gene: TANGO2 was added gene: TANGO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TANGO2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TALDO1 |
Ellen McDonagh gene: TALDO1 was added gene: TALDO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TALDO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TACO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SYNE1 |
Ellen McDonagh gene: SYNE1 was added gene: SYNE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SYNE1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SUOX |
Ellen McDonagh gene: SUOX was added gene: SUOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SUOX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SUMF1 |
Ellen McDonagh gene: SUMF1 was added gene: SUMF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SUMF1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SUFU |
Ellen McDonagh gene: SUFU was added gene: SUFU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SUFU was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SUCLG1 |
Ellen McDonagh gene: SUCLG1 was added gene: SUCLG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SUCLG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | STT3A |
Ellen McDonagh gene: STT3A was added gene: STT3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: STT3A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | STS |
Ellen McDonagh gene: STS was added gene: STS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: STS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ST3GAL5 |
Ellen McDonagh gene: ST3GAL5 was added gene: ST3GAL5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ST3GAL5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ST3GAL3 |
Ellen McDonagh gene: ST3GAL3 was added gene: ST3GAL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ST3GAL3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SSR4 |
Ellen McDonagh gene: SSR4 was added gene: SSR4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SSR4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SRD5A3 |
Ellen McDonagh gene: SRD5A3 was added gene: SRD5A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SRD5A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SPTLC2 |
Ellen McDonagh gene: SPTLC2 was added gene: SPTLC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SPTLC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SPTLC1 |
Ellen McDonagh gene: SPTLC1 was added gene: SPTLC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SPTLC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SPTBN2 |
Ellen McDonagh gene: SPTBN2 was added gene: SPTBN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SPTBN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SMPD4 |
Ellen McDonagh gene: SMPD4 was added gene: SMPD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SMPD4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SMPD1 |
Ellen McDonagh gene: SMPD1 was added gene: SMPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SMPD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC9A6 |
Ellen McDonagh gene: SLC9A6 was added gene: SLC9A6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC9A6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC7A9 |
Ellen McDonagh gene: SLC7A9 was added gene: SLC7A9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC7A9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC7A7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A20 |
Ellen McDonagh gene: SLC6A20 was added gene: SLC6A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC6A20 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A19 |
Ellen McDonagh gene: SLC6A19 was added gene: SLC6A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC6A19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC5A1 |
Ellen McDonagh gene: SLC5A1 was added gene: SLC5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC5A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC52A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC52A2 |
Ellen McDonagh gene: SLC52A2 was added gene: SLC52A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC52A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC46A1 |
Ellen McDonagh gene: SLC46A1 was added gene: SLC46A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC46A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC40A1 |
Ellen McDonagh gene: SLC40A1 was added gene: SLC40A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC40A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC3A1 |
Ellen McDonagh gene: SLC3A1 was added gene: SLC3A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC3A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC39A8 |
Ellen McDonagh gene: SLC39A8 was added gene: SLC39A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC39A8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC39A4 |
Ellen McDonagh gene: SLC39A4 was added gene: SLC39A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC39A4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC37A4 |
Ellen McDonagh gene: SLC37A4 was added gene: SLC37A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC37A4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC35D1 |
Ellen McDonagh gene: SLC35D1 was added gene: SLC35D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC35D1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC35C1 |
Ellen McDonagh gene: SLC35C1 was added gene: SLC35C1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC35C1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC35A2 |
Ellen McDonagh gene: SLC35A2 was added gene: SLC35A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC35A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC35A1 |
Ellen McDonagh gene: SLC35A1 was added gene: SLC35A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC35A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC2A2 |
Ellen McDonagh gene: SLC2A2 was added gene: SLC2A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC2A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A46 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A38 |
Ellen McDonagh gene: SLC25A38 was added gene: SLC25A38 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A38 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A3 |
Ellen McDonagh gene: SLC25A3 was added gene: SLC25A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A26 |
Ellen McDonagh gene: SLC25A26 was added gene: SLC25A26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A26 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A22 |
Ellen McDonagh gene: SLC25A22 was added gene: SLC25A22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A22 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A20 |
Ellen McDonagh gene: SLC25A20 was added gene: SLC25A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A20 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A19 |
Ellen McDonagh gene: SLC25A19 was added gene: SLC25A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A15 |
Ellen McDonagh gene: SLC25A15 was added gene: SLC25A15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A15 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A13 |
Ellen McDonagh gene: SLC25A13 was added gene: SLC25A13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A13 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A12 |
Ellen McDonagh gene: SLC25A12 was added gene: SLC25A12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC25A1 |
Ellen McDonagh gene: SLC25A1 was added gene: SLC25A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC25A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC22A5 |
Ellen McDonagh gene: SLC22A5 was added gene: SLC22A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC22A5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC19A2 |
Ellen McDonagh gene: SLC19A2 was added gene: SLC19A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC19A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC18A2 |
Ellen McDonagh gene: SLC18A2 was added gene: SLC18A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC18A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC17A5 |
Ellen McDonagh gene: SLC17A5 was added gene: SLC17A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC17A5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC16A1 |
Ellen McDonagh gene: SLC16A1 was added gene: SLC16A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC16A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC12A3 |
Ellen McDonagh gene: SLC12A3 was added gene: SLC12A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SLC12A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SKIV2L |
Ellen McDonagh gene: SKIV2L was added gene: SKIV2L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SKIV2L was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SI |
Ellen McDonagh gene: SI was added gene: SI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SI was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SGSH |
Ellen McDonagh gene: SGSH was added gene: SGSH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SGSH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SEPSECS |
Ellen McDonagh gene: SEPSECS was added gene: SEPSECS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SEPSECS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SEC23B |
Ellen McDonagh gene: SEC23B was added gene: SEC23B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SEC23B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHD |
Ellen McDonagh gene: SDHD was added gene: SDHD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHC |
Ellen McDonagh gene: SDHC was added gene: SDHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHB |
Ellen McDonagh gene: SDHB was added gene: SDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHAF2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHAF1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SDCCAG8 |
Ellen McDonagh gene: SDCCAG8 was added gene: SDCCAG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDCCAG8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SCP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SCO2 |
Ellen McDonagh gene: SCO2 was added gene: SCO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SCO2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SCO1 |
Ellen McDonagh gene: SCO1 was added gene: SCO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SCO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SC5D |
Ellen McDonagh gene: SC5D was added gene: SC5D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SC5D was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SBDS |
Ellen McDonagh gene: SBDS was added gene: SBDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SBDS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SARS2 |
Ellen McDonagh gene: SARS2 was added gene: SARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SAR1B |
Ellen McDonagh gene: SAR1B was added gene: SAR1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SAR1B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RYR1 |
Ellen McDonagh gene: RYR1 was added gene: RYR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RYR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RRM2B |
Ellen McDonagh gene: RRM2B was added gene: RRM2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RRM2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RPL10 |
Ellen McDonagh gene: RPL10 was added gene: RPL10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RPL10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RPIA |
Ellen McDonagh gene: RPIA was added gene: RPIA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RPIA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RPGRIP1L |
Ellen McDonagh gene: RPGRIP1L was added gene: RPGRIP1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RPGRIP1L was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ROBO3 |
Ellen McDonagh gene: ROBO3 was added gene: ROBO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ROBO3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNF216 |
Ellen McDonagh gene: RNF216 was added gene: RNF216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RNF216 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNF170 |
Ellen McDonagh gene: RNF170 was added gene: RNF170 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RNF170 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RNASEH2A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNASEH1 |
Ellen McDonagh gene: RNASEH1 was added gene: RNASEH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RNASEH1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RMND1 |
Ellen McDonagh gene: RMND1 was added gene: RMND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RMND1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RFT1 |
Ellen McDonagh gene: RFT1 was added gene: RFT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RFT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RELN |
Ellen McDonagh gene: RELN was added gene: RELN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RELN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RBP4 |
Ellen McDonagh gene: RBP4 was added gene: RBP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RBP4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RBCK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RARS2 |
Ellen McDonagh gene: RARS2 was added gene: RARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RANBP2 |
Ellen McDonagh gene: RANBP2 was added gene: RANBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RANBP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | QARS |
Ellen McDonagh gene: QARS was added gene: QARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: QARS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PYGM |
Ellen McDonagh gene: PYGM was added gene: PYGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PYGM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PYGL |
Ellen McDonagh gene: PYGL was added gene: PYGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PYGL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PYCR1 |
Ellen McDonagh gene: PYCR1 was added gene: PYCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PYCR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PUS1 |
Ellen McDonagh gene: PUS1 was added gene: PUS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PUS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PTF1A |
Ellen McDonagh gene: PTF1A was added gene: PTF1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PTF1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PSPH |
Ellen McDonagh gene: PSPH was added gene: PSPH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PSPH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PSAT1 |
Ellen McDonagh gene: PSAT1 was added gene: PSAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PSAT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PSAP |
Ellen McDonagh gene: PSAP was added gene: PSAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PSAP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRPS1 |
Ellen McDonagh gene: PRPS1 was added gene: PRPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PRPS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRODH |
Ellen McDonagh gene: PRODH was added gene: PRODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PRODH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRKAG2 |
Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PRKAG2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PPT1 |
Ellen McDonagh gene: PPT1 was added gene: PPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PPT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PPOX |
Ellen McDonagh gene: PPOX was added gene: PPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PPOX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PPA2 |
Ellen McDonagh gene: PPA2 was added gene: PPA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PPA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POR |
Ellen McDonagh gene: POR was added gene: POR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POMT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POMT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POMGNT2 |
Ellen McDonagh gene: POMGNT2 was added gene: POMGNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POMGNT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POMGNT1 |
Ellen McDonagh gene: POMGNT1 was added gene: POMGNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POMGNT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POLG2 |
Ellen McDonagh gene: POLG2 was added gene: POLG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POLG2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POLG |
Ellen McDonagh gene: POLG was added gene: POLG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: POLG was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNPT1 |
Ellen McDonagh gene: PNPT1 was added gene: PNPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PNPT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNPO |
Ellen McDonagh gene: PNPO was added gene: PNPO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PNPO was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNPLA6 |
Ellen McDonagh gene: PNPLA6 was added gene: PNPLA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PNPLA6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNP |
Ellen McDonagh gene: PNP was added gene: PNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PNP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PMPCA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PMM2 |
Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PMM2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PKHD1 |
Ellen McDonagh gene: PKHD1 was added gene: PKHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PKHD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PKD2 |
Ellen McDonagh gene: PKD2 was added gene: PKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PKD2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PKD1 |
Ellen McDonagh gene: PKD1 was added gene: PKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PKD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGV |
Ellen McDonagh gene: PIGV was added gene: PIGV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGV was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGT |
Ellen McDonagh gene: PIGT was added gene: PIGT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGO |
Ellen McDonagh gene: PIGO was added gene: PIGO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGO was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGN |
Ellen McDonagh gene: PIGN was added gene: PIGN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGM |
Ellen McDonagh gene: PIGM was added gene: PIGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGL |
Ellen McDonagh gene: PIGL was added gene: PIGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PIGA |
Ellen McDonagh gene: PIGA was added gene: PIGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PIGA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHYH |
Ellen McDonagh gene: PHYH was added gene: PHYH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHYH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHKG2 |
Ellen McDonagh gene: PHKG2 was added gene: PHKG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHKG2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHKB |
Ellen McDonagh gene: PHKB was added gene: PHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHKB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHKA2 |
Ellen McDonagh gene: PHKA2 was added gene: PHKA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHKA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHKA1 |
Ellen McDonagh gene: PHKA1 was added gene: PHKA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHKA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PHGDH |
Ellen McDonagh gene: PHGDH was added gene: PHGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PHGDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGM3 |
Ellen McDonagh gene: PGM3 was added gene: PGM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGM3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGM1 |
Ellen McDonagh gene: PGM1 was added gene: PGM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGM1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGK1 |
Ellen McDonagh gene: PGK1 was added gene: PGK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGAP3 |
Ellen McDonagh gene: PGAP3 was added gene: PGAP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGAP3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGAP2 |
Ellen McDonagh gene: PGAP2 was added gene: PGAP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGAP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PGAM2 |
Ellen McDonagh gene: PGAM2 was added gene: PGAM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PGAM2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PFKM |
Ellen McDonagh gene: PFKM was added gene: PFKM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PFKM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX7 |
Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX6 |
Ellen McDonagh gene: PEX6 was added gene: PEX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX5 |
Ellen McDonagh gene: PEX5 was added gene: PEX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX3 |
Ellen McDonagh gene: PEX3 was added gene: PEX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX26 |
Ellen McDonagh gene: PEX26 was added gene: PEX26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX26 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX2 |
Ellen McDonagh gene: PEX2 was added gene: PEX2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX16 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX13 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX11B |
Ellen McDonagh gene: PEX11B was added gene: PEX11B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX11B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEX1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PEPD |
Ellen McDonagh gene: PEPD was added gene: PEPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PEPD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDSS2 |
Ellen McDonagh gene: PDSS2 was added gene: PDSS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDSS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDSS1 |
Ellen McDonagh gene: PDSS1 was added gene: PDSS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDSS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDPR |
Ellen McDonagh gene: PDPR was added gene: PDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDPR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDP1 |
Ellen McDonagh gene: PDP1 was added gene: PDP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDHB |
Ellen McDonagh gene: PDHB was added gene: PDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDHB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDGFRB |
Ellen McDonagh gene: PDGFRB was added gene: PDGFRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDGFRB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCSK9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PCK1 |
Ellen McDonagh gene: PCK1 was added gene: PCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCBD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PC |
Ellen McDonagh gene: PC was added gene: PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PAX6 |
Ellen McDonagh gene: PAX6 was added gene: PAX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PAX6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PARS2 |
Ellen McDonagh gene: PARS2 was added gene: PARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PAH |
Ellen McDonagh gene: PAH was added gene: PAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PAH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OXCT1 |
Ellen McDonagh gene: OXCT1 was added gene: OXCT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OXCT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OTC |
Ellen McDonagh gene: OTC was added gene: OTC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OTC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OPLAH |
Ellen McDonagh gene: OPLAH was added gene: OPLAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OPLAH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OPHN1 |
Ellen McDonagh gene: OPHN1 was added gene: OPHN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OPHN1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OPA1 |
Ellen McDonagh gene: OPA1 was added gene: OPA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OPA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OFD1 |
Ellen McDonagh gene: OFD1 was added gene: OFD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OFD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OCRL |
Ellen McDonagh gene: OCRL was added gene: OCRL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OCRL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OAT |
Ellen McDonagh gene: OAT was added gene: OAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: OAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NUBPL |
Ellen McDonagh gene: NUBPL was added gene: NUBPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NUBPL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NT5C3A |
Ellen McDonagh gene: NT5C3A was added gene: NT5C3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NT5C3A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NSDHL |
Ellen McDonagh gene: NSDHL was added gene: NSDHL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NSDHL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPHP4 |
Ellen McDonagh gene: NPHP4 was added gene: NPHP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NPHP4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPHP3 |
Ellen McDonagh gene: NPHP3 was added gene: NPHP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NPHP3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPHP1 |
Ellen McDonagh gene: NPHP1 was added gene: NPHP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NPHP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NHLRC1 |
Ellen McDonagh gene: NHLRC1 was added gene: NHLRC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NHLRC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NFU1 |
Ellen McDonagh gene: NFU1 was added gene: NFU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NFU1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NEU1 |
Ellen McDonagh gene: NEU1 was added gene: NEU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NEU1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NEK8 |
Ellen McDonagh gene: NEK8 was added gene: NEK8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NEK8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NEK1 |
Ellen McDonagh gene: NEK1 was added gene: NEK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NEK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFV2 |
Ellen McDonagh gene: NDUFV2 was added gene: NDUFV2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFV2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS6 |
Ellen McDonagh gene: NDUFS6 was added gene: NDUFS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS3 |
Ellen McDonagh gene: NDUFS3 was added gene: NDUFS3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS2 |
Ellen McDonagh gene: NDUFS2 was added gene: NDUFS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFB9 |
Ellen McDonagh gene: NDUFB9 was added gene: NDUFB9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFB9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFB3 |
Ellen McDonagh gene: NDUFB3 was added gene: NDUFB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFB3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFB11 |
Ellen McDonagh gene: NDUFB11 was added gene: NDUFB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFB11 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF4 |
Ellen McDonagh gene: NDUFAF4 was added gene: NDUFAF4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFAF4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF3 |
Ellen McDonagh gene: NDUFAF3 was added gene: NDUFAF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFAF3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF2 |
Ellen McDonagh gene: NDUFAF2 was added gene: NDUFAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFAF2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF1 |
Ellen McDonagh gene: NDUFAF1 was added gene: NDUFAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFAF1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA4 |
Ellen McDonagh gene: NDUFA4 was added gene: NDUFA4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFA4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA2 |
Ellen McDonagh gene: NDUFA2 was added gene: NDUFA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA11 |
Ellen McDonagh gene: NDUFA11 was added gene: NDUFA11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFA11 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NARS2 |
Ellen McDonagh gene: NARS2 was added gene: NARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NAGS |
Ellen McDonagh gene: NAGS was added gene: NAGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NAGS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NAGLU was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NAGA |
Ellen McDonagh gene: NAGA was added gene: NAGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NAGA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MVK |
Ellen McDonagh gene: MVK was added gene: MVK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MVK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MUT |
Ellen McDonagh gene: MUT was added gene: MUT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MUT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TY |
Ellen McDonagh gene: MT-TY was added gene: MT-TY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TW |
Ellen McDonagh gene: MT-TW was added gene: MT-TW was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TV |
Ellen McDonagh gene: MT-TV was added gene: MT-TV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TT |
Ellen McDonagh gene: MT-TT was added gene: MT-TT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TS2 |
Ellen McDonagh gene: MT-TS2 was added gene: MT-TS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TS1 |
Ellen McDonagh gene: MT-TS1 was added gene: MT-TS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TR |
Ellen McDonagh gene: MT-TR was added gene: MT-TR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TQ |
Ellen McDonagh gene: MT-TQ was added gene: MT-TQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TP |
Ellen McDonagh gene: MT-TP was added gene: MT-TP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTTP |
Ellen McDonagh gene: MTTP was added gene: MTTP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTTP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TN |
Ellen McDonagh gene: MT-TN was added gene: MT-TN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TM |
Ellen McDonagh gene: MT-TM was added gene: MT-TM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TL2 |
Ellen McDonagh gene: MT-TL2 was added gene: MT-TL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TL1 |
Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TI |
Ellen McDonagh gene: MT-TI was added gene: MT-TI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TH |
Ellen McDonagh gene: MT-TH was added gene: MT-TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TG |
Ellen McDonagh gene: MT-TG was added gene: MT-TG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TF |
Ellen McDonagh gene: MT-TF was added gene: MT-TF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TE |
Ellen McDonagh gene: MT-TE was added gene: MT-TE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TD |
Ellen McDonagh gene: MT-TD was added gene: MT-TD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TA |
Ellen McDonagh gene: MT-TA was added gene: MT-TA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTRR |
Ellen McDonagh gene: MTRR was added gene: MTRR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTRR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-RNR2 |
Ellen McDonagh gene: MT-RNR2 was added gene: MT-RNR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-RNR1 |
Ellen McDonagh gene: MT-RNR1 was added gene: MT-RNR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTR |
Ellen McDonagh gene: MTR was added gene: MTR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTPAP |
Ellen McDonagh gene: MTPAP was added gene: MTPAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTPAP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTO1 |
Ellen McDonagh gene: MTO1 was added gene: MTO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND4L |
Ellen McDonagh gene: MT-ND4L was added gene: MT-ND4L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND2 |
Ellen McDonagh gene: MT-ND2 was added gene: MT-ND2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTHFR |
Ellen McDonagh gene: MTHFR was added gene: MTHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTHFR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-CYB |
Ellen McDonagh gene: MT-CYB was added gene: MT-CYB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-CO2 |
Ellen McDonagh gene: MT-CO2 was added gene: MT-CO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-CO1 |
Ellen McDonagh gene: MT-CO1 was added gene: MT-CO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ATP8 |
Ellen McDonagh gene: MT-ATP8 was added gene: MT-ATP8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MSMO1 |
Ellen McDonagh gene: MSMO1 was added gene: MSMO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MSMO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MRPS34 |
Ellen McDonagh gene: MRPS34 was added gene: MRPS34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MRPS34 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MRPS22 |
Ellen McDonagh gene: MRPS22 was added gene: MRPS22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MRPS22 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MRPL3 |
Ellen McDonagh gene: MRPL3 was added gene: MRPL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MRPL3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MPV17 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MPI |
Ellen McDonagh gene: MPI was added gene: MPI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MPI was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MPDU1 |
Ellen McDonagh gene: MPDU1 was added gene: MPDU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MPDU1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MOGS |
Ellen McDonagh gene: MOGS was added gene: MOGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MOGS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MOCS2 |
Ellen McDonagh gene: MOCS2 was added gene: MOCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MOCS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MOCS1 |
Ellen McDonagh gene: MOCS1 was added gene: MOCS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MOCS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MMADHC |
Ellen McDonagh gene: MMADHC was added gene: MMADHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MMADHC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MMACHC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MMAB |
Ellen McDonagh gene: MMAB was added gene: MMAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MMAB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MMAA |
Ellen McDonagh gene: MMAA was added gene: MMAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MMAA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MLYCD |
Ellen McDonagh gene: MLYCD was added gene: MLYCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MLYCD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MKS1 |
Ellen McDonagh gene: MKS1 was added gene: MKS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MKS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MKKS |
Ellen McDonagh gene: MKKS was added gene: MKKS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MKKS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MGME1 |
Ellen McDonagh gene: MGME1 was added gene: MGME1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MGME1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MGAT2 |
Ellen McDonagh gene: MGAT2 was added gene: MGAT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MGAT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MFSD8 |
Ellen McDonagh gene: MFSD8 was added gene: MFSD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MFSD8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MFN2 |
Ellen McDonagh gene: MFN2 was added gene: MFN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MFN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MFF |
Ellen McDonagh gene: MFF was added gene: MFF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MFF was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MDH2 |
Ellen McDonagh gene: MDH2 was added gene: MDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MDH2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MCOLN1 |
Ellen McDonagh gene: MCOLN1 was added gene: MCOLN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MCOLN1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MCEE |
Ellen McDonagh gene: MCEE was added gene: MCEE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MCEE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MCCC2 |
Ellen McDonagh gene: MCCC2 was added gene: MCCC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MCCC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MCCC1 |
Ellen McDonagh gene: MCCC1 was added gene: MCCC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MCCC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAT1A |
Ellen McDonagh gene: MAT1A was added gene: MAT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAT1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAPKBP1 |
Ellen McDonagh gene: MAPKBP1 was added gene: MAPKBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAPKBP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAOA |
Ellen McDonagh gene: MAOA was added gene: MAOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAOA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MANBA |
Ellen McDonagh gene: MANBA was added gene: MANBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MANBA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAN2B1 |
Ellen McDonagh gene: MAN2B1 was added gene: MAN2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAN2B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAN1B1 |
Ellen McDonagh gene: MAN1B1 was added gene: MAN1B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAN1B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MAGT1 |
Ellen McDonagh gene: MAGT1 was added gene: MAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MAGT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LZTFL1 |
Ellen McDonagh gene: LZTFL1 was added gene: LZTFL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LZTFL1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LPL |
Ellen McDonagh gene: LPL was added gene: LPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LPL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LPIN1 |
Ellen McDonagh gene: LPIN1 was added gene: LPIN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LPIN1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LONP1 |
Ellen McDonagh gene: LONP1 was added gene: LONP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LONP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LMBRD1 |
Ellen McDonagh gene: LMBRD1 was added gene: LMBRD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LMBRD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LIPT1 |
Ellen McDonagh gene: LIPT1 was added gene: LIPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LIPT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LIPC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LIPA |
Ellen McDonagh gene: LIPA was added gene: LIPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LIPA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LIAS |
Ellen McDonagh gene: LIAS was added gene: LIAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LIAS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LDLRAP1 |
Ellen McDonagh gene: LDLRAP1 was added gene: LDLRAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LDLRAP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LDLR |
Ellen McDonagh gene: LDLR was added gene: LDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LDLR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LDHA |
Ellen McDonagh gene: LDHA was added gene: LDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LDHA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LCT |
Ellen McDonagh gene: LCT was added gene: LCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LCT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LCAT |
Ellen McDonagh gene: LCAT was added gene: LCAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LCAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LBR |
Ellen McDonagh gene: LBR was added gene: LBR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LBR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LARS2 |
Ellen McDonagh gene: LARS2 was added gene: LARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LARGE1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LAMP2 |
Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LAMP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | L2HGDH |
Ellen McDonagh gene: L2HGDH was added gene: L2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: L2HGDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KYNU |
Ellen McDonagh gene: KYNU was added gene: KYNU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KYNU was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KIF7 |
Ellen McDonagh gene: KIF7 was added gene: KIF7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KIF7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KIAA0586 |
Ellen McDonagh gene: KIAA0586 was added gene: KIAA0586 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KIAA0586 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNQ3 |
Ellen McDonagh gene: KCNQ3 was added gene: KCNQ3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KCNQ3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNK18 |
Ellen McDonagh gene: KCNK18 was added gene: KCNK18 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KCNK18 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNJ10 |
Ellen McDonagh gene: KCNJ10 was added gene: KCNJ10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KCNJ10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KARS |
Ellen McDonagh gene: KARS was added gene: KARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KARS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IVD |
Ellen McDonagh gene: IVD was added gene: IVD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IVD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ITPA |
Ellen McDonagh gene: ITPA was added gene: ITPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ITPA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ISPD |
Ellen McDonagh gene: ISPD was added gene: ISPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ISPD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ISG15 |
Ellen McDonagh gene: ISG15 was added gene: ISG15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ISG15 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ISCU |
Ellen McDonagh gene: ISCU was added gene: ISCU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ISCU was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IQCB1 |
Ellen McDonagh gene: IQCB1 was added gene: IQCB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IQCB1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | INVS |
Ellen McDonagh gene: INVS was added gene: INVS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: INVS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | INPP5E |
Ellen McDonagh gene: INPP5E was added gene: INPP5E was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: INPP5E was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT80 |
Ellen McDonagh gene: IFT80 was added gene: IFT80 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT80 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT52 |
Ellen McDonagh gene: IFT52 was added gene: IFT52 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT52 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT43 |
Ellen McDonagh gene: IFT43 was added gene: IFT43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT43 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT27 |
Ellen McDonagh gene: IFT27 was added gene: IFT27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT27 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT172 |
Ellen McDonagh gene: IFT172 was added gene: IFT172 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT172 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT140 |
Ellen McDonagh gene: IFT140 was added gene: IFT140 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT140 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFT122 |
Ellen McDonagh gene: IFT122 was added gene: IFT122 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT122 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IER3IP1 |
Ellen McDonagh gene: IER3IP1 was added gene: IER3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IER3IP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IDUA |
Ellen McDonagh gene: IDUA was added gene: IDUA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IDUA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IDS |
Ellen McDonagh gene: IDS was added gene: IDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IDS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IDH2 |
Ellen McDonagh gene: IDH2 was added gene: IDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IDH2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ICK |
Ellen McDonagh gene: ICK was added gene: ICK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ICK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IBA57 |
Ellen McDonagh gene: IBA57 was added gene: IBA57 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IBA57 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IARS2 |
Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HYLS1 |
Ellen McDonagh gene: HYLS1 was added gene: HYLS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HYLS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HYAL1 |
Ellen McDonagh gene: HYAL1 was added gene: HYAL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HYAL1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HSD3B7 |
Ellen McDonagh gene: HSD3B7 was added gene: HSD3B7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HSD3B7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HSD17B4 |
Ellen McDonagh gene: HSD17B4 was added gene: HSD17B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HSD17B4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HSD17B10 |
Ellen McDonagh gene: HSD17B10 was added gene: HSD17B10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HSD17B10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HPS1 |
Ellen McDonagh gene: HPS1 was added gene: HPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HPS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HPRT1 |
Ellen McDonagh gene: HPRT1 was added gene: HPRT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HPRT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HPD |
Ellen McDonagh gene: HPD was added gene: HPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HPD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HOGA1 |
Ellen McDonagh gene: HOGA1 was added gene: HOGA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HOGA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HNF1B |
Ellen McDonagh gene: HNF1B was added gene: HNF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HNF1B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HMGCS2 |
Ellen McDonagh gene: HMGCS2 was added gene: HMGCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HMGCS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HMGCL |
Ellen McDonagh gene: HMGCL was added gene: HMGCL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HMGCL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HMBS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HLCS |
Ellen McDonagh gene: HLCS was added gene: HLCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HLCS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HGSNAT |
Ellen McDonagh gene: HGSNAT was added gene: HGSNAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HGSNAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HGD |
Ellen McDonagh gene: HGD was added gene: HGD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HGD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HFE2 |
Ellen McDonagh gene: HFE2 was added gene: HFE2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HFE2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HFE |
Ellen McDonagh gene: HFE was added gene: HFE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HFE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HEXB |
Ellen McDonagh gene: HEXB was added gene: HEXB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HEXB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HCCS |
Ellen McDonagh gene: HCCS was added gene: HCCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HCCS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HAMP |
Ellen McDonagh gene: HAMP was added gene: HAMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HAMP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HADHB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HADHA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HADH |
Ellen McDonagh gene: HADH was added gene: HADH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HADH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HAAO |
Ellen McDonagh gene: HAAO was added gene: HAAO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HAAO was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GYS2 |
Ellen McDonagh gene: GYS2 was added gene: GYS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GYS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GYS1 |
Ellen McDonagh gene: GYS1 was added gene: GYS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GYS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GYG1 |
Ellen McDonagh gene: GYG1 was added gene: GYG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GYG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GUSB |
Ellen McDonagh gene: GUSB was added gene: GUSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GUSB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GTPBP3 |
Ellen McDonagh gene: GTPBP3 was added gene: GTPBP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GTPBP3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GSS |
Ellen McDonagh gene: GSS was added gene: GSS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GSS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GRHPR |
Ellen McDonagh gene: GRHPR was added gene: GRHPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GRHPR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GPHN |
Ellen McDonagh gene: GPHN was added gene: GPHN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GPHN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GPD1 |
Ellen McDonagh gene: GPD1 was added gene: GPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GPD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GPAA1 |
Ellen McDonagh gene: GPAA1 was added gene: GPAA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GPAA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GOSR2 |
Ellen McDonagh gene: GOSR2 was added gene: GOSR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GOSR2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNS |
Ellen McDonagh gene: GNS was added gene: GNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNPTG |
Ellen McDonagh gene: GNPTG was added gene: GNPTG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNPTG was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNPTAB |
Ellen McDonagh gene: GNPTAB was added gene: GNPTAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNPTAB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNPAT |
Ellen McDonagh gene: GNPAT was added gene: GNPAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNPAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNMT |
Ellen McDonagh gene: GNMT was added gene: GNMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNMT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNE |
Ellen McDonagh gene: GNE was added gene: GNE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GNE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GMPPB |
Ellen McDonagh gene: GMPPB was added gene: GMPPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GMPPB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLYCTK |
Ellen McDonagh gene: GLYCTK was added gene: GLYCTK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLYCTK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLUL |
Ellen McDonagh gene: GLUL was added gene: GLUL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLUL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLUD1 |
Ellen McDonagh gene: GLUD1 was added gene: GLUD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLUD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLRX5 |
Ellen McDonagh gene: GLRX5 was added gene: GLRX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLRX5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLRB |
Ellen McDonagh gene: GLRB was added gene: GLRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLRB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLIS2 |
Ellen McDonagh gene: GLIS2 was added gene: GLIS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLIS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLI3 |
Ellen McDonagh gene: GLI3 was added gene: GLI3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLI3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLDC |
Ellen McDonagh gene: GLDC was added gene: GLDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLDC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLA |
Ellen McDonagh gene: GLA was added gene: GLA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GLA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GK |
Ellen McDonagh gene: GK was added gene: GK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GIF |
Ellen McDonagh gene: GIF was added gene: GIF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GIF was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GFPT1 |
Ellen McDonagh gene: GFPT1 was added gene: GFPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GFPT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GFM1 |
Ellen McDonagh gene: GFM1 was added gene: GFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GFM1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GFER |
Ellen McDonagh gene: GFER was added gene: GFER was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GFER was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GFAP |
Ellen McDonagh gene: GFAP was added gene: GFAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GFAP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GDAP1 |
Ellen McDonagh gene: GDAP1 was added gene: GDAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GDAP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GCLC |
Ellen McDonagh gene: GCLC was added gene: GCLC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GCLC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GBE1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GBA2 |
Ellen McDonagh gene: GBA2 was added gene: GBA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GBA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GATM |
Ellen McDonagh gene: GATM was added gene: GATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GATM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GARS |
Ellen McDonagh gene: GARS was added gene: GARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GARS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GAMT |
Ellen McDonagh gene: GAMT was added gene: GAMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GAMT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALT |
Ellen McDonagh gene: GALT was added gene: GALT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALNT3 |
Ellen McDonagh gene: GALNT3 was added gene: GALNT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALNT3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALNS |
Ellen McDonagh gene: GALNS was added gene: GALNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALNS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALK1 |
Ellen McDonagh gene: GALK1 was added gene: GALK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALE |
Ellen McDonagh gene: GALE was added gene: GALE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GALC |
Ellen McDonagh gene: GALC was added gene: GALC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GALC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GABRG2 |
Ellen McDonagh gene: GABRG2 was added gene: GABRG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GABRG2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GAA |
Ellen McDonagh gene: GAA was added gene: GAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: GAA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | G6PC3 |
Ellen McDonagh gene: G6PC3 was added gene: G6PC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: G6PC3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | G6PC |
Ellen McDonagh gene: G6PC was added gene: G6PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: G6PC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FUT8 |
Ellen McDonagh gene: FUT8 was added gene: FUT8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FUT8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FUCA1 |
Ellen McDonagh gene: FUCA1 was added gene: FUCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FUCA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FTCD |
Ellen McDonagh gene: FTCD was added gene: FTCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FTCD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FOXP2 |
Ellen McDonagh gene: FOXP2 was added gene: FOXP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FOXP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FMO3 |
Ellen McDonagh gene: FMO3 was added gene: FMO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FMO3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FLVCR1 |
Ellen McDonagh gene: FLVCR1 was added gene: FLVCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FLVCR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FLAD1 |
Ellen McDonagh gene: FLAD1 was added gene: FLAD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FLAD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FKTN |
Ellen McDonagh gene: FKTN was added gene: FKTN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FKTN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FKRP |
Ellen McDonagh gene: FKRP was added gene: FKRP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FKRP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FH |
Ellen McDonagh gene: FH was added gene: FH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FGFR2 |
Ellen McDonagh gene: FGFR2 was added gene: FGFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FGFR2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FECH |
Ellen McDonagh gene: FECH was added gene: FECH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FECH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FDXR |
Ellen McDonagh gene: FDXR was added gene: FDXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FDXR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FBXL4 |
Ellen McDonagh gene: FBXL4 was added gene: FBXL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FBXL4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FBP1 |
Ellen McDonagh gene: FBP1 was added gene: FBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FBP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FASTKD2 |
Ellen McDonagh gene: FASTKD2 was added gene: FASTKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FASTKD2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FARS2 |
Ellen McDonagh gene: FARS2 was added gene: FARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FAR1 |
Ellen McDonagh gene: FAR1 was added gene: FAR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FAR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FAH |
Ellen McDonagh gene: FAH was added gene: FAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FAH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EXT2 |
Ellen McDonagh gene: EXT2 was added gene: EXT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EXT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EXT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EXOSC3 |
Ellen McDonagh gene: EXOSC3 was added gene: EXOSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EXOSC3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EVC2 |
Ellen McDonagh gene: EVC2 was added gene: EVC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EVC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EVC |
Ellen McDonagh gene: EVC was added gene: EVC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EVC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ETHE1 |
Ellen McDonagh gene: ETHE1 was added gene: ETHE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ETHE1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ETFDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ETFB |
Ellen McDonagh gene: ETFB was added gene: ETFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ETFB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ETFA |
Ellen McDonagh gene: ETFA was added gene: ETFA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ETFA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EPM2A |
Ellen McDonagh gene: EPM2A was added gene: EPM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EPM2A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EPG5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ENO3 |
Ellen McDonagh gene: ENO3 was added gene: ENO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ENO3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ELAC2 |
Ellen McDonagh gene: ELAC2 was added gene: ELAC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ELAC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EIF2B5 |
Ellen McDonagh gene: EIF2B5 was added gene: EIF2B5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EIF2B5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EIF2B4 |
Ellen McDonagh gene: EIF2B4 was added gene: EIF2B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EIF2B4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EIF2B3 |
Ellen McDonagh gene: EIF2B3 was added gene: EIF2B3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EIF2B3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EIF2B2 |
Ellen McDonagh gene: EIF2B2 was added gene: EIF2B2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EIF2B2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EIF2B1 |
Ellen McDonagh gene: EIF2B1 was added gene: EIF2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EIF2B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EBP |
Ellen McDonagh gene: EBP was added gene: EBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EBP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | EARS2 |
Ellen McDonagh gene: EARS2 was added gene: EARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DYNC2LI1 |
Ellen McDonagh gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DYNC2LI1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DYNC2H1 |
Ellen McDonagh gene: DYNC2H1 was added gene: DYNC2H1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DYNC2H1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DYM |
Ellen McDonagh gene: DYM was added gene: DYM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DYM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPYS |
Ellen McDonagh gene: DPYS was added gene: DPYS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPYS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPYD |
Ellen McDonagh gene: DPYD was added gene: DPYD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPYD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPM3 |
Ellen McDonagh gene: DPM3 was added gene: DPM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPM3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPM2 |
Ellen McDonagh gene: DPM2 was added gene: DPM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPM2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPM1 |
Ellen McDonagh gene: DPM1 was added gene: DPM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPM1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DPAGT1 |
Ellen McDonagh gene: DPAGT1 was added gene: DPAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DPAGT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DOLK |
Ellen McDonagh gene: DOLK was added gene: DOLK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DOLK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNMT1 |
Ellen McDonagh gene: DNMT1 was added gene: DNMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNMT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNM1L |
Ellen McDonagh gene: DNM1L was added gene: DNM1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNM1L was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNAJC19 |
Ellen McDonagh gene: DNAJC19 was added gene: DNAJC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNAJC19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNAH1 |
Ellen McDonagh gene: DNAH1 was added gene: DNAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNAH1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNA2 |
Ellen McDonagh gene: DNA2 was added gene: DNA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DMXL2 |
Ellen McDonagh gene: DMXL2 was added gene: DMXL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DMXL2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DKC1 |
Ellen McDonagh gene: DKC1 was added gene: DKC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DKC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHTKD1 |
Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHTKD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHODH |
Ellen McDonagh gene: DHODH was added gene: DHODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHODH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHFR |
Ellen McDonagh gene: DHFR was added gene: DHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHFR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHDDS |
Ellen McDonagh gene: DHDDS was added gene: DHDDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHDDS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHCR7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DHCR24 |
Ellen McDonagh gene: DHCR24 was added gene: DHCR24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHCR24 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DGUOK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DDX59 |
Ellen McDonagh gene: DDX59 was added gene: DDX59 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DDX59 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DDHD2 |
Ellen McDonagh gene: DDHD2 was added gene: DDHD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DDHD2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DCXR |
Ellen McDonagh gene: DCXR was added gene: DCXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DCXR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DCDC2 |
Ellen McDonagh gene: DCDC2 was added gene: DCDC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DCDC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DCC |
Ellen McDonagh gene: DCC was added gene: DCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DCC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DBT |
Ellen McDonagh gene: DBT was added gene: DBT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DBT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DBH |
Ellen McDonagh gene: DBH was added gene: DBH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DBH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DARS2 |
Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DARS |
Ellen McDonagh gene: DARS was added gene: DARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DARS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DAG1 |
Ellen McDonagh gene: DAG1 was added gene: DAG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DAG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | D2HGDH |
Ellen McDonagh gene: D2HGDH was added gene: D2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: D2HGDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CYP7B1 |
Ellen McDonagh gene: CYP7B1 was added gene: CYP7B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CYP7B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CYP2U1 |
Ellen McDonagh gene: CYP2U1 was added gene: CYP2U1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CYP2U1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CYCS |
Ellen McDonagh gene: CYCS was added gene: CYCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CYCS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CYC1 |
Ellen McDonagh gene: CYC1 was added gene: CYC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CYC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CUBN |
Ellen McDonagh gene: CUBN was added gene: CUBN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CUBN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTSK |
Ellen McDonagh gene: CTSK was added gene: CTSK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CTSK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTSC |
Ellen McDonagh gene: CTSC was added gene: CTSC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CTSC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTSA |
Ellen McDonagh gene: CTSA was added gene: CTSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CTSA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTNS |
Ellen McDonagh gene: CTNS was added gene: CTNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CTNS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTH |
Ellen McDonagh gene: CTH was added gene: CTH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CTH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CSPP1 |
Ellen McDonagh gene: CSPP1 was added gene: CSPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CSPP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CRB2 |
Ellen McDonagh gene: CRB2 was added gene: CRB2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CRB2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CPT2 |
Ellen McDonagh gene: CPT2 was added gene: CPT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPT1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CPS1 |
Ellen McDonagh gene: CPS1 was added gene: CPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPOX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CP |
Ellen McDonagh gene: CP was added gene: CP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX7B |
Ellen McDonagh gene: COX7B was added gene: COX7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX7B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX6B1 |
Ellen McDonagh gene: COX6B1 was added gene: COX6B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX6B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX6A1 |
Ellen McDonagh gene: COX6A1 was added gene: COX6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX6A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX20 |
Ellen McDonagh gene: COX20 was added gene: COX20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX20 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX14 |
Ellen McDonagh gene: COX14 was added gene: COX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ9 |
Ellen McDonagh gene: COQ9 was added gene: COQ9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ8B |
Ellen McDonagh gene: COQ8B was added gene: COQ8B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ8B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ8A |
Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ8A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ6 |
Ellen McDonagh gene: COQ6 was added gene: COQ6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ4 |
Ellen McDonagh gene: COQ4 was added gene: COQ4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COQ2 |
Ellen McDonagh gene: COQ2 was added gene: COQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COQ2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG8 |
Ellen McDonagh gene: COG8 was added gene: COG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG7 |
Ellen McDonagh gene: COG7 was added gene: COG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG6 |
Ellen McDonagh gene: COG6 was added gene: COG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG5 |
Ellen McDonagh gene: COG5 was added gene: COG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG4 |
Ellen McDonagh gene: COG4 was added gene: COG4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COG1 |
Ellen McDonagh gene: COG1 was added gene: COG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COA6 |
Ellen McDonagh gene: COA6 was added gene: COA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COA6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COA3 |
Ellen McDonagh gene: COA3 was added gene: COA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COA3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CNNM2 |
Ellen McDonagh gene: CNNM2 was added gene: CNNM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CNNM2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLPP |
Ellen McDonagh gene: CLPP was added gene: CLPP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CLPP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLN6 |
Ellen McDonagh gene: CLN6 was added gene: CLN6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CLN6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLDN19 |
Ellen McDonagh gene: CLDN19 was added gene: CLDN19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CLDN19 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLDN16 |
Ellen McDonagh gene: CLDN16 was added gene: CLDN16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CLDN16 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLCN2 |
Ellen McDonagh gene: CLCN2 was added gene: CLCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CLCN2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CISD2 |
Ellen McDonagh gene: CISD2 was added gene: CISD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CISD2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHSY1 |
Ellen McDonagh gene: CHSY1 was added gene: CHSY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHSY1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHST6 |
Ellen McDonagh gene: CHST6 was added gene: CHST6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHST6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHST3 |
Ellen McDonagh gene: CHST3 was added gene: CHST3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHST3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHST14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHMP2B |
Ellen McDonagh gene: CHMP2B was added gene: CHMP2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHMP2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHMP1A |
Ellen McDonagh gene: CHMP1A was added gene: CHMP1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHMP1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHKB |
Ellen McDonagh gene: CHKB was added gene: CHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHKB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CHCHD10 |
Ellen McDonagh gene: CHCHD10 was added gene: CHCHD10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHCHD10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CFAP43 |
Ellen McDonagh gene: CFAP43 was added gene: CFAP43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CFAP43 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP83 |
Ellen McDonagh gene: CEP83 was added gene: CEP83 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP83 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP41 |
Ellen McDonagh gene: CEP41 was added gene: CEP41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP41 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP290 |
Ellen McDonagh gene: CEP290 was added gene: CEP290 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP290 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP164 |
Ellen McDonagh gene: CEP164 was added gene: CEP164 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP164 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP120 |
Ellen McDonagh gene: CEP120 was added gene: CEP120 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP120 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP104 |
Ellen McDonagh gene: CEP104 was added gene: CEP104 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP104 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CENPF |
Ellen McDonagh gene: CENPF was added gene: CENPF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CENPF was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CCDC115 |
Ellen McDonagh gene: CCDC115 was added gene: CCDC115 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CCDC115 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CC2D2A |
Ellen McDonagh gene: CC2D2A was added gene: CC2D2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CC2D2A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CBS |
Ellen McDonagh gene: CBS was added gene: CBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CBS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CAT |
Ellen McDonagh gene: CAT was added gene: CAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CASK |
Ellen McDonagh gene: CASK was added gene: CASK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CASK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CAMTA1 |
Ellen McDonagh gene: CAMTA1 was added gene: CAMTA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CAMTA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CA5A |
Ellen McDonagh gene: CA5A was added gene: CA5A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CA5A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C5orf42 |
Ellen McDonagh gene: C5orf42 was added gene: C5orf42 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C5orf42 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C2CD3 |
Ellen McDonagh gene: C2CD3 was added gene: C2CD3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C2CD3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C21orf2 |
Ellen McDonagh gene: C21orf2 was added gene: C21orf2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C21orf2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C1QBP |
Ellen McDonagh gene: C1QBP was added gene: C1QBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C1QBP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C12orf65 |
Ellen McDonagh gene: C12orf65 was added gene: C12orf65 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C12orf65 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BTD |
Ellen McDonagh gene: BTD was added gene: BTD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BTD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BOLA3 |
Ellen McDonagh gene: BOLA3 was added gene: BOLA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BOLA3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BCKDK |
Ellen McDonagh gene: BCKDK was added gene: BCKDK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BCKDK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BCKDHB |
Ellen McDonagh gene: BCKDHB was added gene: BCKDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BCKDHB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BCKDHA |
Ellen McDonagh gene: BCKDHA was added gene: BCKDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BCKDHA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS9 |
Ellen McDonagh gene: BBS9 was added gene: BBS9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS7 |
Ellen McDonagh gene: BBS7 was added gene: BBS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS5 |
Ellen McDonagh gene: BBS5 was added gene: BBS5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS4 |
Ellen McDonagh gene: BBS4 was added gene: BBS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS2 |
Ellen McDonagh gene: BBS2 was added gene: BBS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS12 |
Ellen McDonagh gene: BBS12 was added gene: BBS12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS10 |
Ellen McDonagh gene: BBS10 was added gene: BBS10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BBS1 |
Ellen McDonagh gene: BBS1 was added gene: BBS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BBS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BAAT |
Ellen McDonagh gene: BAAT was added gene: BAAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: BAAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B9D2 |
Ellen McDonagh gene: B9D2 was added gene: B9D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B9D2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B4GAT1 |
Ellen McDonagh gene: B4GAT1 was added gene: B4GAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B4GAT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B4GALT7 |
Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B4GALT7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B4GALT1 |
Ellen McDonagh gene: B4GALT1 was added gene: B4GALT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B4GALT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B3GLCT |
Ellen McDonagh gene: B3GLCT was added gene: B3GLCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B3GLCT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B3GAT3 |
Ellen McDonagh gene: B3GAT3 was added gene: B3GAT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B3GAT3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B3GALT6 |
Ellen McDonagh gene: B3GALT6 was added gene: B3GALT6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B3GALT6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | B3GALNT2 |
Ellen McDonagh gene: B3GALNT2 was added gene: B3GALNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B3GALNT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AUH |
Ellen McDonagh gene: AUH was added gene: AUH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AUH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATPAF2 |
Ellen McDonagh gene: ATPAF2 was added gene: ATPAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATPAF2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP8B1 |
Ellen McDonagh gene: ATP8B1 was added gene: ATP8B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATP8B1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP8A2 |
Ellen McDonagh gene: ATP8A2 was added gene: ATP8A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATP8A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATP7A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP6V0A2 |
Ellen McDonagh gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATP6V0A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP6AP1 |
Ellen McDonagh gene: ATP6AP1 was added gene: ATP6AP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATP6AP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATIC |
Ellen McDonagh gene: ATIC was added gene: ATIC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATIC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATAD3A |
Ellen McDonagh gene: ATAD3A was added gene: ATAD3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ATAD3A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ASS1 |
Ellen McDonagh gene: ASS1 was added gene: ASS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ASS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ASPA |
Ellen McDonagh gene: ASPA was added gene: ASPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ASPA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ASL |
Ellen McDonagh gene: ASL was added gene: ASL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ASL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ASAH1 |
Ellen McDonagh gene: ASAH1 was added gene: ASAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ASAH1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARSE |
Ellen McDonagh gene: ARSE was added gene: ARSE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ARSE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARSB |
Ellen McDonagh gene: ARSB was added gene: ARSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ARSB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARL6 |
Ellen McDonagh gene: ARL6 was added gene: ARL6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ARL6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARL13B |
Ellen McDonagh gene: ARL13B was added gene: ARL13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ARL13B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARG1 |
Ellen McDonagh gene: ARG1 was added gene: ARG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ARG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APRT |
Ellen McDonagh gene: APRT was added gene: APRT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APRT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOPT1 |
Ellen McDonagh gene: APOPT1 was added gene: APOPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOPT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOE |
Ellen McDonagh gene: APOE was added gene: APOE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOC2 |
Ellen McDonagh gene: APOC2 was added gene: APOC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOB |
Ellen McDonagh gene: APOB was added gene: APOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOA5 |
Ellen McDonagh gene: APOA5 was added gene: APOA5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOA5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APOA1 |
Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: APOA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ANKS6 |
Ellen McDonagh gene: ANKS6 was added gene: ANKS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ANKS6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AMT |
Ellen McDonagh gene: AMT was added gene: AMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AMT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AMPD2 |
Ellen McDonagh gene: AMPD2 was added gene: AMPD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AMPD2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AMN |
Ellen McDonagh gene: AMN was added gene: AMN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AMN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AMACR |
Ellen McDonagh gene: AMACR was added gene: AMACR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AMACR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALPL |
Ellen McDonagh gene: ALPL was added gene: ALPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALPL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALMS1 |
Ellen McDonagh gene: ALMS1 was added gene: ALMS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALMS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG9 |
Ellen McDonagh gene: ALG9 was added gene: ALG9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG8 |
Ellen McDonagh gene: ALG8 was added gene: ALG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG6 |
Ellen McDonagh gene: ALG6 was added gene: ALG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG3 |
Ellen McDonagh gene: ALG3 was added gene: ALG3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG13 |
Ellen McDonagh gene: ALG13 was added gene: ALG13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG13 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG12 |
Ellen McDonagh gene: ALG12 was added gene: ALG12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG11 |
Ellen McDonagh gene: ALG11 was added gene: ALG11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG11 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALG1 |
Ellen McDonagh gene: ALG1 was added gene: ALG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDOB |
Ellen McDonagh gene: ALDOB was added gene: ALDOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDOB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDOA |
Ellen McDonagh gene: ALDOA was added gene: ALDOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDOA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH7A1 |
Ellen McDonagh gene: ALDH7A1 was added gene: ALDH7A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDH7A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH6A1 |
Ellen McDonagh gene: ALDH6A1 was added gene: ALDH6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDH6A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH5A1 |
Ellen McDonagh gene: ALDH5A1 was added gene: ALDH5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDH5A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH4A1 |
Ellen McDonagh gene: ALDH4A1 was added gene: ALDH4A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDH4A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH3A2 |
Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALDH3A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALAS2 |
Ellen McDonagh gene: ALAS2 was added gene: ALAS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALAS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALAD |
Ellen McDonagh gene: ALAD was added gene: ALAD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALAD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AKR1D1 |
Ellen McDonagh gene: AKR1D1 was added gene: AKR1D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AKR1D1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AIFM1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AHI1 |
Ellen McDonagh gene: AHI1 was added gene: AHI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AHI1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AGXT |
Ellen McDonagh gene: AGXT was added gene: AGXT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGXT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AGPS |
Ellen McDonagh gene: AGPS was added gene: AGPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGPS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AGL |
Ellen McDonagh gene: AGL was added gene: AGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AGK |
Ellen McDonagh gene: AGK was added gene: AGK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AGA |
Ellen McDonagh gene: AGA was added gene: AGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ADSL |
Ellen McDonagh gene: ADSL was added gene: ADSL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ADSL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ADGRG1 |
Ellen McDonagh gene: ADGRG1 was added gene: ADGRG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ADGRG1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ADA |
Ellen McDonagh gene: ADA was added gene: ADA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ADA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACY1 |
Ellen McDonagh gene: ACY1 was added gene: ACY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACY1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACO2 |
Ellen McDonagh gene: ACO2 was added gene: ACO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACO2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACAT1 |
Ellen McDonagh gene: ACAT1 was added gene: ACAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACAT1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACADVL |
Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACADVL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACADSB |
Ellen McDonagh gene: ACADSB was added gene: ACADSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACADSB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACADS |
Ellen McDonagh gene: ACADS was added gene: ACADS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACADS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACADM |
Ellen McDonagh gene: ACADM was added gene: ACADM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACADM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACAD9 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACAD8 |
Ellen McDonagh gene: ACAD8 was added gene: ACAD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ACAD8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABHD5 |
Ellen McDonagh gene: ABHD5 was added gene: ABHD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABHD5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABHD12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCG8 |
Ellen McDonagh gene: ABCG8 was added gene: ABCG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCG8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCG5 |
Ellen McDonagh gene: ABCG5 was added gene: ABCG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCG5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCD4 |
Ellen McDonagh gene: ABCD4 was added gene: ABCD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCD4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCD1 |
Ellen McDonagh gene: ABCD1 was added gene: ABCD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCB4 |
Ellen McDonagh gene: ABCB4 was added gene: ABCB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCB4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCB11 |
Ellen McDonagh gene: ABCB11 was added gene: ABCB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCB11 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCA1 |
Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ABCA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WWOX |
Ellen McDonagh gene: WWOX was added gene: WWOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: WWOX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WFS1 |
Ellen McDonagh gene: WFS1 was added gene: WFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: WFS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TTBK2 |
Ellen McDonagh gene: TTBK2 was added gene: TTBK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: TTBK2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TPP1 |
Ellen McDonagh gene: TPP1 was added gene: TPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: TPP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM240 |
Ellen McDonagh gene: TMEM240 was added gene: TMEM240 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: TMEM240 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TGM6 |
Ellen McDonagh gene: TGM6 was added gene: TGM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: TGM6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | STUB1 |
Ellen McDonagh gene: STUB1 was added gene: STUB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: STUB1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SPG7 |
Ellen McDonagh gene: SPG7 was added gene: SPG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SPG7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SNX14 |
Ellen McDonagh gene: SNX14 was added gene: SNX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SNX14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A5 |
Ellen McDonagh gene: SLC6A5 was added gene: SLC6A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SLC6A5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC1A3 |
Ellen McDonagh gene: SLC1A3 was added gene: SLC1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SLC1A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SIL1 |
Ellen McDonagh gene: SIL1 was added gene: SIL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SIL1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SCN1A |
Ellen McDonagh gene: SCN1A was added gene: SCN1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SCN1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SACS |
Ellen McDonagh gene: SACS was added gene: SACS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SACS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRKCG |
Ellen McDonagh gene: PRKCG was added gene: PRKCG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: PRKCG was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PPP2R2B |
Ellen McDonagh gene: PPP2R2B was added gene: PPP2R2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: PPP2R2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDYN |
Ellen McDonagh gene: PDYN was added gene: PDYN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: PDYN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NOP56 |
Ellen McDonagh gene: NOP56 was added gene: NOP56 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: NOP56 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCND3 |
Ellen McDonagh gene: KCND3 was added gene: KCND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: KCND3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNC3 |
Ellen McDonagh gene: KCNC3 was added gene: KCNC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: KCNC3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ITPR1 |
Ellen McDonagh gene: ITPR1 was added gene: ITPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ITPR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GRM1 |
Ellen McDonagh gene: GRM1 was added gene: GRM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: GRM1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GRID2 |
Ellen McDonagh gene: GRID2 was added gene: GRID2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: GRID2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FGF14 |
Ellen McDonagh gene: FGF14 was added gene: FGF14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: FGF14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ELOVL4 |
Ellen McDonagh gene: ELOVL4 was added gene: ELOVL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ELOVL4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNAJC5 |
Ellen McDonagh gene: DNAJC5 was added gene: DNAJC5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: DNAJC5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DMPK |
Ellen McDonagh gene: DMPK was added gene: DMPK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: DMPK was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CYP27A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CWF19L1 |
Ellen McDonagh gene: CWF19L1 was added gene: CWF19L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CWF19L1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CTSD |
Ellen McDonagh gene: CTSD was added gene: CTSD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CTSD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLN8 |
Ellen McDonagh gene: CLN8 was added gene: CLN8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CLN8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CIZ1 |
Ellen McDonagh gene: CIZ1 was added gene: CIZ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CIZ1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CA8 |
Ellen McDonagh gene: CA8 was added gene: CA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CA8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATXN7 |
Ellen McDonagh gene: ATXN7 was added gene: ATXN7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATXN7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATXN10 |
Ellen McDonagh gene: ATXN10 was added gene: ATXN10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATXN10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATXN1 |
Ellen McDonagh gene: ATXN1 was added gene: ATXN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATXN1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATCAY |
Ellen McDonagh gene: ATCAY was added gene: ATCAY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATCAY was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ANO10 |
Ellen McDonagh gene: ANO10 was added gene: ANO10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ANO10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACSF3 |
Ellen McDonagh gene: ACSF3 was added gene: ACSF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ACSF3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABCB7 |
Ellen McDonagh gene: ABCB7 was added gene: ABCB7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ABCB7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AASS |
Ellen McDonagh gene: AASS was added gene: AASS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: AASS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AAAS |
Ellen McDonagh gene: AAAS was added gene: AAAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: AAAS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ZSWIM6 |
Ellen McDonagh gene: ZSWIM6 was added gene: ZSWIM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ZSWIM6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | YY1 |
Ellen McDonagh gene: YY1 was added gene: YY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: YY1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR73 |
Ellen McDonagh gene: WDR73 was added gene: WDR73 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: WDR73 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | WDR45 |
Ellen McDonagh gene: WDR45 was added gene: WDR45 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: WDR45 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VPS13D |
Ellen McDonagh gene: VPS13D was added gene: VPS13D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VPS13D was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VPS13A |
Ellen McDonagh gene: VPS13A was added gene: VPS13A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VPS13A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VAMP2 |
Ellen McDonagh gene: VAMP2 was added gene: VAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VAMP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VAMP1 |
Ellen McDonagh gene: VAMP1 was added gene: VAMP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VAMP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | VAC14 |
Ellen McDonagh gene: VAC14 was added gene: VAC14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VAC14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TUBB4A |
Ellen McDonagh gene: TUBB4A was added gene: TUBB4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TUBB4A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TREX1 |
Ellen McDonagh gene: TREX1 was added gene: TREX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TREX1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TOR1A |
Ellen McDonagh gene: TOR1A was added gene: TOR1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TOR1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TIMM8A |
Ellen McDonagh gene: TIMM8A was added gene: TIMM8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TIMM8A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | THAP1 |
Ellen McDonagh gene: THAP1 was added gene: THAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: THAP1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TH |
Ellen McDonagh gene: TH was added gene: TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TAF1 |
Ellen McDonagh gene: TAF1 was added gene: TAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TAF1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SYNJ1 |
Ellen McDonagh gene: SYNJ1 was added gene: SYNJ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SYNJ1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SURF1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SPR |
Ellen McDonagh gene: SPR was added gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SPR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A8 |
Ellen McDonagh gene: SLC6A8 was added gene: SLC6A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A3 |
Ellen McDonagh gene: SLC6A3 was added gene: SLC6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC6A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC39A14 |
Ellen McDonagh gene: SLC39A14 was added gene: SLC39A14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC39A14 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC30A10 |
Ellen McDonagh gene: SLC30A10 was added gene: SLC30A10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC30A10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC2A1 |
Ellen McDonagh gene: SLC2A1 was added gene: SLC2A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC20A2 |
Ellen McDonagh gene: SLC20A2 was added gene: SLC20A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC20A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC19A3 |
Ellen McDonagh gene: SLC19A3 was added gene: SLC19A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SGCE |
Ellen McDonagh gene: SGCE was added gene: SGCE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SGCE was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SETX |
Ellen McDonagh gene: SETX was added gene: SETX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SETX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SERAC1 |
Ellen McDonagh gene: SERAC1 was added gene: SERAC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SERAC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SCN8A |
Ellen McDonagh gene: SCN8A was added gene: SCN8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SCN8A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SAMHD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNASET2 |
Ellen McDonagh gene: RNASET2 was added gene: RNASET2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RNASET2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNASEH2C |
Ellen McDonagh gene: RNASEH2C was added gene: RNASEH2C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RNASEH2C was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RNASEH2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | RAB39B |
Ellen McDonagh gene: RAB39B was added gene: RAB39B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RAB39B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | QDPR |
Ellen McDonagh gene: QDPR was added gene: QDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: QDPR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PTS |
Ellen McDonagh gene: PTS was added gene: PTS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PTS was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRRT2 |
Ellen McDonagh gene: PRRT2 was added gene: PRRT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRRT2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRNP |
Ellen McDonagh gene: PRNP was added gene: PRNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRNP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRKRA |
Ellen McDonagh gene: PRKRA was added gene: PRKRA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRKRA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PRKN |
Ellen McDonagh gene: PRKN was added gene: PRKN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRKN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | POLR3A |
Ellen McDonagh gene: POLR3A was added gene: POLR3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: POLR3A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNKP |
Ellen McDonagh gene: PNKP was added gene: PNKP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PNKP was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PNKD |
Ellen McDonagh gene: PNKD was added gene: PNKD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PNKD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PLA2G6 |
Ellen McDonagh gene: PLA2G6 was added gene: PLA2G6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PINK1 |
Ellen McDonagh gene: PINK1 was added gene: PINK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PINK1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PET100 |
Ellen McDonagh gene: PET100 was added gene: PET100 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PET100 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDHX |
Ellen McDonagh gene: PDHX was added gene: PDHX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDHX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDHA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDGFB |
Ellen McDonagh gene: PDGFB was added gene: PDGFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDGFB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDE2A |
Ellen McDonagh gene: PDE2A was added gene: PDE2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDE2A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PDE10A |
Ellen McDonagh gene: PDE10A was added gene: PDE10A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDE10A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PCCB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PCCA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | PANK2 |
Ellen McDonagh gene: PANK2 was added gene: PANK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PANK2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OPA3 |
Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: OPA3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | OCLN |
Ellen McDonagh gene: OCLN was added gene: OCLN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: OCLN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NPC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NPC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NKX6-2 |
Ellen McDonagh gene: NKX6-2 was added gene: NKX6-2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NGLY1 |
Ellen McDonagh gene: NGLY1 was added gene: NGLY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NGLY1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFV1 |
Ellen McDonagh gene: NDUFV1 was added gene: NDUFV1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFV1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS8 |
Ellen McDonagh gene: NDUFS8 was added gene: NDUFS8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS8 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS7 |
Ellen McDonagh gene: NDUFS7 was added gene: NDUFS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS4 |
Ellen McDonagh gene: NDUFS4 was added gene: NDUFS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS1 |
Ellen McDonagh gene: NDUFS1 was added gene: NDUFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF6 |
Ellen McDonagh gene: NDUFAF6 was added gene: NDUFAF6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF5 |
Ellen McDonagh gene: NDUFAF5 was added gene: NDUFAF5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA10 |
Ellen McDonagh gene: NDUFA10 was added gene: NDUFA10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFA10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA1 |
Ellen McDonagh gene: NDUFA1 was added gene: NDUFA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TK |
Ellen McDonagh gene: MT-TK was added gene: MT-TK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-TC |
Ellen McDonagh gene: MT-TC was added gene: MT-TC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND6 |
Ellen McDonagh gene: MT-ND6 was added gene: MT-ND6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND5 |
Ellen McDonagh gene: MT-ND5 was added gene: MT-ND5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND4 |
Ellen McDonagh gene: MT-ND4 was added gene: MT-ND4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND3 |
Ellen McDonagh gene: MT-ND3 was added gene: MT-ND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ND1 |
Ellen McDonagh gene: MT-ND1 was added gene: MT-ND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MTFMT |
Ellen McDonagh gene: MTFMT was added gene: MTFMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MTFMT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-CO3 |
Ellen McDonagh gene: MT-CO3 was added gene: MT-CO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MT-ATP6 |
Ellen McDonagh gene: MT-ATP6 was added gene: MT-ATP6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MRE11 |
Ellen McDonagh gene: MRE11 was added gene: MRE11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MRE11 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MECR |
Ellen McDonagh gene: MECR was added gene: MECR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MECR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | MARS2 |
Ellen McDonagh gene: MARS2 was added gene: MARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MARS2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | LRPPRC |
Ellen McDonagh gene: LRPPRC was added gene: LRPPRC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: LRPPRC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KMT2B |
Ellen McDonagh gene: KMT2B was added gene: KMT2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KMT2B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KIF1C |
Ellen McDonagh gene: KIF1C was added gene: KIF1C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KIF1C was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCTD17 |
Ellen McDonagh gene: KCTD17 was added gene: KCTD17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCTD17 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNQ2 |
Ellen McDonagh gene: KCNQ2 was added gene: KCNQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNMA1 |
Ellen McDonagh gene: KCNMA1 was added gene: KCNMA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCNMA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | KCNA1 |
Ellen McDonagh gene: KCNA1 was added gene: KCNA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCNA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | IFIH1 |
Ellen McDonagh gene: IFIH1 was added gene: IFIH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: IFIH1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HTRA2 |
Ellen McDonagh gene: HTRA2 was added gene: HTRA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HTRA2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HSPD1 |
Ellen McDonagh gene: HSPD1 was added gene: HSPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HSPD1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HPCA |
Ellen McDonagh gene: HPCA was added gene: HPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HPCA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HIBCH |
Ellen McDonagh gene: HIBCH was added gene: HIBCH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HIBCH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HEXA |
Ellen McDonagh gene: HEXA was added gene: HEXA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HEXA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | HCFC1 |
Ellen McDonagh gene: HCFC1 was added gene: HCFC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HCFC1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GTPBP2 |
Ellen McDonagh gene: GTPBP2 was added gene: GTPBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GTPBP2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNAO1 |
Ellen McDonagh gene: GNAO1 was added gene: GNAO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GNAO1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GNAL |
Ellen McDonagh gene: GNAL was added gene: GNAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GNAL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GM2A |
Ellen McDonagh gene: GM2A was added gene: GM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GM2A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLRA1 |
Ellen McDonagh gene: GLRA1 was added gene: GLRA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GLRA1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GLB1 |
Ellen McDonagh gene: GLB1 was added gene: GLB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GLB1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GJC2 |
Ellen McDonagh gene: GJC2 was added gene: GJC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GJC2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GCH1 |
Ellen McDonagh gene: GCH1 was added gene: GCH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GCH1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GCDH |
Ellen McDonagh gene: GCDH was added gene: GCDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GCDH was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | GBA |
Ellen McDonagh gene: GBA was added gene: GBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GBA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FXN |
Ellen McDonagh gene: FXN was added gene: FXN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FXN was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FTL |
Ellen McDonagh gene: FTL was added gene: FTL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FTL was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FOXRED1 |
Ellen McDonagh gene: FOXRED1 was added gene: FOXRED1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FOXRED1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FOLR1 |
Ellen McDonagh gene: FOLR1 was added gene: FOLR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FOLR1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FBXO7 |
Ellen McDonagh gene: FBXO7 was added gene: FBXO7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FBXO7 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FA2H was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ECHS1 |
Ellen McDonagh gene: ECHS1 was added gene: ECHS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ECHS1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DNAJC12 |
Ellen McDonagh gene: DNAJC12 was added gene: DNAJC12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DNAJC12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DLD |
Ellen McDonagh gene: DLD was added gene: DLD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DLD was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DLAT |
Ellen McDonagh gene: DLAT was added gene: DLAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DLAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DDC |
Ellen McDonagh gene: DDC was added gene: DDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DDC was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | DCAF17 |
Ellen McDonagh gene: DCAF17 was added gene: DCAF17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DCAF17 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CSTB |
Ellen McDonagh gene: CSTB was added gene: CSTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CSTB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX15 |
Ellen McDonagh gene: COX15 was added gene: COX15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: COX15 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COX10 |
Ellen McDonagh gene: COX10 was added gene: COX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: COX10 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COL6A3 |
Ellen McDonagh gene: COL6A3 was added gene: COL6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: COL6A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | COASY |
Ellen McDonagh gene: COASY was added gene: COASY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: COASY was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLPB |
Ellen McDonagh gene: CLPB was added gene: CLPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CLPB was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLN5 |
Ellen McDonagh gene: CLN5 was added gene: CLN5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CLN5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CLN3 |
Ellen McDonagh gene: CLN3 was added gene: CLN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CLN3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CACNB4 |
Ellen McDonagh gene: CACNB4 was added gene: CACNB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNB4 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CACNA1G |
Ellen McDonagh gene: CACNA1G was added gene: CACNA1G was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNA1G was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | CACNA1A |
Ellen McDonagh gene: CACNA1A was added gene: CACNA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNA1A was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C9orf72 |
Ellen McDonagh gene: C9orf72 was added gene: C9orf72 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: C9orf72 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | C19orf12 |
Ellen McDonagh gene: C19orf12 was added gene: C19orf12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: C19orf12 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BCS1L |
Ellen McDonagh gene: BCS1L was added gene: BCS1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: BCS1L was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: BCAP31 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP7B |
Ellen McDonagh gene: ATP7B was added gene: ATP7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP7B was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP1A3 |
Ellen McDonagh gene: ATP1A3 was added gene: ATP1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP1A2 |
Ellen McDonagh gene: ATP1A2 was added gene: ATP1A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATP13A2 |
Ellen McDonagh gene: ATP13A2 was added gene: ATP13A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP13A2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ATM |
Ellen McDonagh gene: ATM was added gene: ATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATM was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ARSA was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | APTX |
Ellen McDonagh gene: APTX was added gene: APTX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: APTX was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AP1S2 |
Ellen McDonagh gene: AP1S2 was added gene: AP1S2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: AP1S2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ANO3 |
Ellen McDonagh gene: ANO3 was added gene: ANO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ANO3 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ALDH18A1 |
Ellen McDonagh gene: ALDH18A1 was added gene: ALDH18A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | AFG3L2 |
Ellen McDonagh gene: AFG3L2 was added gene: AFG3L2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ADCY5 |
Ellen McDonagh gene: ADCY5 was added gene: ADCY5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ADCY5 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ADAR was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ACOX1 |
Ellen McDonagh gene: ACOX1 was added gene: ACOX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ACOX1 was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | ABAT |
Ellen McDonagh gene: ABAT was added gene: ABAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ABAT was set to |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | Ellen McDonagh Added panel Childhood onset dystonia or chorea or related movement disorder |