Activity

Filter

Cancel
Date Panel Item Activity
2592 actions
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.
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
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. )
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.
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.
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.
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
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
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)
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)
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)
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
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.
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.
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.
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.
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).
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
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.
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
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
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
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
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)
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)
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)
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)
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)
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
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)
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)
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)
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.
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).
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
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.
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.
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.
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.
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.
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
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
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.
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)
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)
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)
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)
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)
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)
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)
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.
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
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.
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.
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.
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.
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.
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.
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.
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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
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
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
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
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.
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.
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.
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.
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.
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
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.
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
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
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
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)
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Childhood onset dystonia, chorea or related movement disorder v0.0 Ellen McDonagh Added panel Childhood onset dystonia or chorea or related movement disorder