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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 | 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 v1.159 | 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 v1.152 | 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 v1.51 | 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 v1.49 | 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 v1.0 | MUT | Louise Daugherty Tag new-gene-name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.97 | 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 v0.60 | 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 v0.7 | 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 | MUT |
Ellen McDonagh Source PanelApp was added to MUT. Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Methylmalonic aciduria, mut(0) type 251000 for gene: MUT |
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| Childhood onset dystonia, chorea or related movement disorder v0.1 | 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 | 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 v0.0 | MUT |
Ellen McDonagh gene: MUT was added gene: MUT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MUT was set to |
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