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Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 ASL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 ARX Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set 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.; to: The rating of this gene has been updated to green and the mode of inheritance set 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 v4.3 TSPOAP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 TMEM151A Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following 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 v4.3 TBC1D24 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 SYT1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following 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 v4.3 SQSTM1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 SLC30A9 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 SLC18A2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 L2HGDH Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 DNAJC6 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following 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 v4.3 TSPOAP1 Achchuthan Shanmugasundram reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 TMEM151A Achchuthan Shanmugasundram commented on gene: TMEM151A: The rating of this gene has been updated togreenand 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 v4.3 TBC1D24 Achchuthan Shanmugasundram commented on gene: TBC1D24: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SYT1 Achchuthan Shanmugasundram commented on gene: SYT1: The rating of this gene has been updated togreenand 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 v4.3 SQSTM1 Achchuthan Shanmugasundram commented on gene: SQSTM1: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC30A9 Achchuthan Shanmugasundram commented on gene: SLC30A9: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC18A2 Achchuthan Shanmugasundram commented on gene: SLC18A2: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 L2HGDH Achchuthan Shanmugasundram commented on gene: L2HGDH: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 DNAJC6 Achchuthan Shanmugasundram reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ASL Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ARX Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v3.78 CENPF Arina Puzriakova Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Childhood onset dystonia, chorea or related movement disorder v3.77 ACBD6 Arina Puzriakova Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
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 v3.66 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 v3.64 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 v3.61 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 v3.56 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 v3.53 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 v3.50 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 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 v3.33 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 v3.32 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 v3.30 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 v3.29 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 v3.27 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 v3.26 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 v3.23 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 v3.22 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 v3.18 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 v3.17 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 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 v3.10 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 v3.6 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 v3.5 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 v3.3 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 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 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 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 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 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 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 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 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 v2.8 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 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 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 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 v2.5 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 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 v1.261 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 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 v1.258 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 v1.257 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 v1.254 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 v1.248 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 v1.239 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 v1.234 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 v1.232 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 v1.229 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 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 v1.222 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 v1.218 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 v1.213 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 v1.211 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 v1.210 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 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 v1.206 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 v1.198 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 v1.195 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 v1.191 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 v1.188 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 v1.186 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 v1.183 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 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 v1.176 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 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 v1.170 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 v1.168 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 v1.165 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 v1.163 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 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 v1.159 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 v1.157 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 v1.156 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 v1.154 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 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 v1.151 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 v1.149 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 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 v1.143 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 v1.141 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 v1.136 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 v1.133 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 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 v1.131 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 v1.127 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 v1.126 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 v1.125 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 v1.122 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 v1.115 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 v1.106 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 v1.104 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 v1.98 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 v1.92 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 v1.90 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 v1.89 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 v1.84 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 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 v1.81 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 v1.77 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 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 v1.73 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 v1.70 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 v1.67 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 v1.62 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 v1.61 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 v1.56 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 v1.54 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 v1.52 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 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 v1.50 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 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 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 v1.7 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 v1.4 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 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 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 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 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 v0.251 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 v0.249 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 v0.247 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 v0.233 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 v0.231 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 v0.224 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 v0.213 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 v0.209 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 v0.197 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 v0.193 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 v0.191 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 v0.187 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 v0.185 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 v0.181 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 v0.177 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 v0.175 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 v0.173 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 v0.170 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 v0.168 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 v0.166 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 v0.164 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 v0.162 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 v0.155 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 v0.153 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 v0.151 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 v0.149 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 v0.145 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 v0.142 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 v0.140 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 v0.138 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 v0.136 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 v0.134 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 v0.132 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 v0.126 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 v0.124 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 v0.121 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 v0.118 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 v0.110 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 Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, 264470
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 v0.104 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 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 v0.97 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 v0.93 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 v0.91 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 v0.89 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 v0.86 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 v0.84 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 v0.82 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 v0.80 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 v0.78 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 v0.76 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 v0.74 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 v0.70 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 v0.66 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 v0.58 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 v0.56 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 v0.54 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 v0.50 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 v0.48 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 v0.46 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 v0.44 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 v0.40 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 v0.38 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 v0.36 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 v0.34 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 v0.31 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 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 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 v0.24 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 v0.19 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 v0.7 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 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 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 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 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 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 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 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 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 v0.1 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 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 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 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 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 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 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 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 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 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 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