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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 v3.65 | ASL |
Eleanor Williams changed review comment from: Argininosuccinic aciduria (ASA) is caused by homozygous mutation in the gene encoding argininosuccinate lyase (ASL). Onset is typically in the neonatal period or in late infancy. The association of biallelic variants in ASL and the phenotype of Argininosuccinic aciduria is well established. e.g. PMID: 12384776 - Linnebank et al 2002 - homozygous/compound het variants in ASL in 27 unrelated individuals of different ancestries. No phenotype information is given. They also found a complete homologue of this gene on chr 22 which is predicted to encode an immunoglobulin-lambda-like mRNA. PMID: 17326097 - Trevisson et al 2007 - report homozygous/compound het variants in ASL in 12 Italian patients with ASA. Ataxia is not mentioned as a phenotypic feature. PMID: 29326055 - AlTassan et al 2018 - a retrospective review of 54 Saudi Arabian patients with ASA from January 2000 to December 2015. 35 patients (63%) had genetic data available all with variants in the ASL gene; c.1060C > T; p.(Gln354*) in 26 patients (likely founder mutation); c.556C > T; p.(Arg186Trp) in 7 patients, c.602+1G > T in one patient and 1062+5G > C in one patient. 7/10 patients are reported to show spasticity although it is not reporterd whether they all shared the same founder variant in ASL. More recent retrospectives show that ataxia is reported in approx. 10% of individuals with Argininosuccinic aciduria. 2 cases with ataxia and ASL variant identified are reported. PMID: 38044746 - Gurung et al 2023 - conducted a UK national multicentre retrospective study assessing the movement disorder phenotype in ASA patients from July 2015 to June 2022. 60 patients were studied with a median age of 12.7 years (range: 6 months to 53 years). 17 (28%) individuals had ASA with neurodegenerative-related symptoms, movement disorder, hypotonia/fatigue and abnormal behaviour. Of these 4 were reported to show tremor/dystonia, with this phenotype present at ages 9, 11, 24 and 25 years of age. Homozygous or compound het ASL variants were recorded in 25/60 patients including 3 out of the 4 patients with tremor/dystonia (patients 4,9 and 25 with c.719-2A>G; c.857A>G, c.1153C>T; c.1153C>T and c.437G>A; c.446+1G>A respectively). Genotype data was not available for other patients. Although patient 4 from this study and patient 9 from the Baruteau et al 2017 study share the same genotype and are both male, their phenotypic descriptions differ so assuming here that they are not the same patient. PMID: 28251416 - Baruteau et al 2017 - conducted a retrospective and prospective analysis of patients in the UK with ASA from March 2013 - December 2015. Tremors or dystonia were reported in 4 individuals (1,4,9 and 25). All were diagnosed before the age of 3 although it is not stated at what age the tremors/dystonia were first noted. The first 3 of these patients had homozygous or compound het variants in ASL identified (c.35G>A;c.35G>A, c.377G>A;c.377G>A and c.719-2A>G, c.857A>G respectively). (PMID: 36994644 - Elkhateeb et al 2023 - characterise the incidence of epilepsy in patients with ASA. ); to: Argininosuccinic aciduria (ASA) is caused by homozygous mutation in the gene encoding argininosuccinate lyase (ASL). Onset is typically in the neonatal period or in late infancy. The association of biallelic variants in ASL and the phenotype of Argininosuccinic aciduria is well established. e.g. PMID: 12384776 - Linnebank et al 2002 - homozygous/compound het variants in ASL in 27 unrelated individuals of different ancestries, PMID: 17326097 - Trevisson et al 2007 - report homozygous/compound het variants in ASL in 12 Italian patients with ASA. PMID: 29326055 - AlTassan et al 2018 - a retrospective review of 54 Saudi Arabian patients with ASA from January 2000 to December 2015. 35 patients (63%) had genetic data available all with variants in the ASL gene; c.1060C > T; p.(Gln354*) in 26 patients (likely founder mutation); c.556C > T; p.(Arg186Trp) in 7 patients, c.602+1G > T in one patient and 1062+5G > C in one patient. More recent retrospectives show that tremors and/or dystonia is reported in some individuals with Argininosuccinic aciduria. 6 cases with ataxia and ASL variant identified are reported. PMID: 38044746 - Gurung et al 2023 - conducted a UK national multicentre retrospective study assessing the movement disorder phenotype in ASA patients from July 2015 to June 2022. 60 patients were studied with a median age of 12.7 years (range: 6 months to 53 years). 17 (28%) individuals had ASA with neurodegenerative-related symptoms, movement disorder, hypotonia/fatigue and abnormal behaviour. Of these 4 were reported to show tremor/dystonia, with this phenotype present at ages 9, 11, 24 and 25 years of age. Homozygous or compound het ASL variants were recorded in 25/60 patients including 3 out of the 4 patients with tremor/dystonia (patients 4,9 and 25 with c.719-2A>G; c.857A>G, c.1153C>T; c.1153C>T and c.437G>A; c.446+1G>A respectively). Genotype data was not available for other patients. Although patient 4 from this study and patient 9 from the Baruteau et al 2017 study share the same genotype and are both male, their phenotypic descriptions differ so assuming here that they are not the same patient. PMID: 28251416 - Baruteau et al 2017 - conducted a retrospective and prospective analysis of patients in the UK with ASA from March 2013 - December 2015. Tremors or dystonia were reported in 4 individuals (1,4,9 and 25). All were diagnosed before the age of 3 although it is not stated at what age the tremors/dystonia were first noted. The first 3 of these patients had homozygous or compound het variants in ASL identified (c.35G>A;c.35G>A, c.377G>A;c.377G>A and c.719-2A>G, c.857A>G respectively). (PMID: 36994644 - Elkhateeb et al 2023 - characterise the incidence of epilepsy in patients with ASA. ) |
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Childhood onset dystonia, chorea or related movement disorder v3.3 | 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 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 | 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 v2.8 | 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 v1.263 | ADAR |
Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from biallelic only to both mono- and biallelic at the next GMS panel update. Dystonia is an established feature of AGS6 (MIM# 615010) associated with AR variants in this gene. Overall the AD condition (dyschromatosis symmetrica hereditaria, MIM# 127400) often presents with changes in skin pigmentation as the only sign of disease. However, there have also been reports of neurologic deficits including ID, developmental regression, brain calcification, seizures and dystonia in some affected individuals, particularly with the Gly1007Arg variant (PMID: 16225627; 16817193; 19017046). Although the penetrance of extracutaneous features is reduced, there is value in testing heterozygous ADAR variants on these panels to ensure syndromic cases are not missed if not tested in the context of the skin phenotype. |
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Childhood onset dystonia, chorea or related movement disorder v1.261 | AP1S2 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease). |
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Childhood onset dystonia, chorea or related movement disorder v1.257 | XK |
Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK would be predictive of possible future conditions.; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK could be predictive of possible future conditions. |
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Childhood onset dystonia, chorea or related movement disorder v1.257 | XK |
Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK would be predictive of possible future conditions. |
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Childhood onset dystonia, chorea or related movement disorder v1.239 | HECW2 |
Arina Puzriakova gene: HECW2 was added gene: HECW2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Q3_22_rating tags were added to gene: HECW2. Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27389779; 27334371; 34321324 Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 Review for gene: HECW2 was set to GREEN Added comment: Acharya et al., 2022 (PMID: 34321324) released a review of 35 previously published and new unpublished cases harbouring HECW2 variants. Clinical characteristics in all individuals included ID/DD and hypotonia with or without spasticity. The review also highlighted motor coordination/movement deficits in 21/28 subjects (75%). Stereotypic movements were the most common (15) but dystonia (4) and chorea (3) are also reported. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.210 | ATP5G3 |
Zornitza Stark gene: ATP5G3 was added gene: ATP5G3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP5G3 were set to 34636445; 34954817 Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681 Review for gene: ATP5G3 was set to GREEN Added comment: Note that HGNC approved gene name is ATP5MC3. PMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity. PMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.195 | 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 v1.183 | 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 v1.176 | 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 v1.167 | ATN1 | Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy, 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.163 | 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. |
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Childhood onset dystonia, chorea or related movement disorder v1.159 | AP1S2 | Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.157 | EIF2AK2 | Arina Puzriakova edited their review of gene: EIF2AK2: Added comment: A further 6 families reported (PMID:33236446; 33866603) harbouring 3 different variants in this gene (including the first homozygous case). Clinical presentation was prominent in all cases for dystonia with onset in infancy or childhood, with subsequent generalisation. Additional clinical details are limited for the family described in PMID:33866603. However, in the remaining families detailed in PMID:33236446, 3 unrelated individuals additionally developed mild ID, spasticity, and brain MRI alterations; while the other 2 families (6 individuals) only had isolated dystonia.; Changed publications to: 32197074, 33236446, 33866603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.153 | CAMK4 |
Arina Puzriakova gene: CAMK4 was added gene: CAMK4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Other,Expert Review Amber,Literature Q3_21_rating tags were added to gene: CAMK4. Mode of inheritance for gene: CAMK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK4 were set to 30262571; 33098801; 33211350 Phenotypes for gene: CAMK4 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality; Abnormality of movement; Dystonia; Ataxia; Chorea; Myoclonus Penetrance for gene: CAMK4 were set to Complete Mode of pathogenicity for gene: CAMK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Childhood onset dystonia, chorea or related movement disorder v1.152 | GNB1 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.100 | UBTF | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green status at the next GMS panel update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.62 | VPS16 |
Zornitza Stark gene: VPS16 was added gene: VPS16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS16 were set to 32808683 Phenotypes for gene: VPS16 were set to Dystonia Review for gene: VPS16 was set to GREEN Added comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood. Additional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | XK |
Zornitza Stark gene: XK was added gene: XK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: XK were set to 11761473 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842 Review for gene: XK was set to GREEN gene: XK was marked as current diagnostic Added comment: 5 out of 13 cases had dystonia as a feature of the condition. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.51 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 31410843 Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523 Review for gene: SLC16A2 was set to GREEN gene: SLC16A2 was marked as current diagnostic Added comment: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.50 | HNRNPH1 |
Arina Puzriakova gene: HNRNPH1 was added gene: HNRNPH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPH1 were set to 29938792; 32335897 Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder Review for gene: HNRNPH1 was set to GREEN Added comment: Probable gene for HNRNPH1-related neurodevelopmental disorder in G2P, but currently not associated with any phenotype in OMIM (last edited on 21/07/2017). Two studies report de novo variants in 8 unrelated cases with a syndromic intellectual disability disorder. Clinical features included moderate-severe GDD/ID (7/7), abnormalities on brain MRI (8/8), ophthalmological abnormalities (7/8), short stature (6/8), and microcephaly (6/8). Movement manifestations were also observed - 3 individuals were non-ambulatory, while another 3 presented dystonia, one of whom also had ataxia, tremor, and wide‐based gait. Sources: Literature |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | 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 | GNB1 |
Zornitza Stark gene: GNB1 was added gene: GNB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 27108799; 30194818; 27668284; 31034681 Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, MIM# 616973 Review for gene: GNB1 was set to GREEN gene: GNB1 was marked as current diagnostic Added comment: Multiple reports of dystonia in this disorder. In a recent series of 18 individuals with de novo mutations, the most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.49 | 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 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 v0.195 | 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 v0.189 | 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 v0.175 | 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 v0.157 | 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 v0.153 | 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 v0.140 | 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 v0.128 | 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 v0.121 | 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 v0.119 | GNAL |
Louise Daugherty changed review comment from: Comment on list classification: downgraded until Specialist Test Group review - need more evidence; to: Comment on list classification: downgraded until Specialist Test Group review rating in view of age of onset Average age at onset 31 years (range 7 to 54) Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID. |
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Childhood onset dystonia, chorea or related movement disorder v0.116 | TAF1 | Louise Daugherty Added comment: Comment on phenotypes: NB: complex mutation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.116 | TAF1 | Louise Daugherty Phenotypes for gene: TAF1 were changed from (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.103 | 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 v0.100 | 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 v0.97 | 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 v0.66 | 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 v0.60 | 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 v0.34 | 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 v0.7 | WDR45 |
Ellen McDonagh Source PanelApp was added to WDR45. Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes beta-propeller protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 5 300894 for gene: WDR45 Publications for gene WDR45 were changed from to 22892189; 23435086; 23176820 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | PDHA1 |
Ellen McDonagh Source PanelApp was added to PDHA1. Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 for gene: PDHA1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | OFD1 |
Ellen McDonagh Source PanelApp was added to OFD1. Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I for gene: OFD1 Publications for gene OFD1 were changed from to 22353940; 19800048 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA1 |
Ellen McDonagh Source PanelApp was added to NDUFA1. Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MAOA |
Ellen McDonagh Source PanelApp was added to MAOA. Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA Publications for gene MAOA were changed from to 8211186; 27830117; 24169519 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | RAB39B |
Ellen McDonagh Source PanelApp was added to RAB39B. Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Waisman syndrome 311510 for gene: RAB39B Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | BCAP31 |
Ellen McDonagh Source PanelApp was added to BCAP31. Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31 Publications for gene BCAP31 were changed from to 28332767; 24011989 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | AP1S2 |
Ellen McDonagh Source PanelApp was added to AP1S2. Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2 Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | TUBB4A |
Ellen McDonagh Source PanelApp was added to TUBB4A. Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A Publications for gene TUBB4A were changed from to 27809427; 24850488; 23582646; 24526230 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | MR1 |
Ellen McDonagh Source PanelApp was added to MR1. Mode of inheritance for gene MR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia; Paroxysmal/Episodic dystonia for gene: MR1 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | KMT2B |
Ellen McDonagh Source PanelApp was added to KMT2B. Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B Publications for gene KMT2B were changed from to 27992417 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GNAO1 |
Ellen McDonagh Source PanelApp was added to GNAO1. Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1 Publications for gene GNAO1 were changed from to 26060304; 27625011; 25966631; 27068059; 28357411 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | GLI3 |
Ellen McDonagh Source PanelApp was added to GLI3. Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel for gene: GLI3 |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | FTL |
Ellen McDonagh Source PanelApp was added to FTL. Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurodegeneration with brain iron accumulation 3 606159 for gene: FTL |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | CHMP2B |
Ellen McDonagh Source PanelApp was added to CHMP2B. Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia; familial frontotemporal lobar degeneration (ALS17) for gene: CHMP2B |
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Childhood onset dystonia, chorea or related movement disorder v0.7 | ANO3 |
Ellen McDonagh Source PanelApp was added to ANO3. Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3 Publications for gene ANO3 were changed from to 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 27392807; 24442708 |
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Childhood onset dystonia, chorea or related movement disorder v0.2 |
Ellen McDonagh Panel status changed from internal to public Panel types changed to GMS Rare Disease |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PITX3 |
Ellen McDonagh gene: PITX3 was added gene: PITX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | HTT |
Ellen McDonagh gene: HTT was added gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease, 143100 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | GFAP |
Ellen McDonagh Source South West GLH was added to GFAP. Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Alexander disease, 203450 for gene: GFAP |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | DCTN1 |
Ellen McDonagh gene: DCTN1 was added gene: DCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ATN1 |
Ellen McDonagh gene: ATN1 was added gene: ATN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy, 125370 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | AIFM1 |
Ellen McDonagh Source South West GLH was added to AIFM1. Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TREX1 |
Ellen McDonagh Source South West GLH was added to TREX1. Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TIMM8A |
Ellen McDonagh Source South West GLH was added to TIMM8A. Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | TAF1 |
Ellen McDonagh Source South West GLH was added to TAF1. Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | HPRT1 |
Ellen McDonagh Source South West GLH was added to HPRT1. Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | FOXG1 |
Ellen McDonagh gene: FOXG1 was added gene: FOXG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant, 613454 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ARX |
Ellen McDonagh gene: ARX was added gene: ARX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ARX were set to Partington Syndrome, 300382 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | ACTB |
Ellen McDonagh gene: ACTB was added gene: ACTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | TAT |
Ellen McDonagh gene: TAT was added gene: TAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TAT was set to |