| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset dystonia, chorea or related movement disorder v3.16 | ARX | Sarah Leigh reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 31324350, 29778428, 23657928, 29343471; 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v3.16 | ARX | Sarah Leigh Mode of inheritance for gene: ARX 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.125 | 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.108 | TAF1 | Arina Puzriakova Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) to Dystonia-Parkinsonism, X-linked, OMIM:314250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.76 | PRKRA | Arina Puzriakova Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.75 | PRKRA |
Arina Puzriakova changed review comment from: - PMID: 18420150 - a novel heterozygous variant c.266_267delAT identified in a patient with generalised dystonia - PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previously reported cases. The authors state screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance - PMID: 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism - PMID: 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L) - PMID: 22842711 - describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa - PMID: 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; to: Copied and removed from publications field: - PMID: 18420150 - a novel heterozygous variant c.266_267delAT identified in a patient with generalised dystonia - PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previously reported cases. The authors state screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance - PMID: 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism - PMID: 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L) - PMID: 22842711 - describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa - PMID: 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation |
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| Adult onset dystonia, chorea or related movement disorder v1.56 | LRRK2 | Arina Puzriakova Phenotypes for gene: LRRK2 were changed from LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant to {Parkinson disease 8}, OMIM:607060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.5 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.125 | TIMM8A | Louise Daugherty Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.106 | ISCA-37468-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source London North GLH was removed from Region: ISCA-37468-Loss. Source Other was added to Region: ISCA-37468-Loss. Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset dystonia, chorea or related movement disorder v0.101 | MUT |
Louise Daugherty Source Expert Review Red was added to MUT. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Adult onset dystonia, chorea or related movement disorder v0.100 | MUT | Louise Daugherty commented on gene: MUT: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.99 | MUT | Louise Daugherty commented on gene: MUT: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.98 | MUT | James Polke commented on gene: MUT: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Methylmalonic aciduria - not a movement disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.64 | ARX | Louise Daugherty Mode of inheritance for gene: ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | MUT | Louise Daugherty edited their review of gene: MUT: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. ; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | MUT | James Polke reviewed gene: MUT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | MUT | Louise Daugherty Source NHS GMS was added to MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | MUT | Louise Daugherty commented on gene: MUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | MUT | Louise Daugherty Tag new-gene-name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | MUT | Louise Daugherty Source London North GLH was added to MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | TAF1 | Emily Jones reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12928496, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26637982, 26879577, 26637982, 17668393, 17273961, 12928496, 17273961, 23184149, 2368812, 20301662, 26769797; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | ATP6AP2 | Emily Jones reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: 23595882; Phenotypes: Mental retardation, X-linked, syndromic, Hedera type 300423, ?Parkinsonism with spasticity, X-linked 300911; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | ARX | Emily Jones reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 29343471, 17664398, 26029707; Phenotypes: Partington Syndrome, 300382; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | AIFM1 | Emily Jones reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: ; Publications: 20362274; Phenotypes: Combined oxidative phosphorylation deficiency 6 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | TAF1 |
Louise Daugherty Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1 Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496 |
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| Adult onset dystonia, chorea or related movement disorder v0.44 | NDUFA1 | Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | NDUFA1 |
Ellen McDonagh gene: NDUFA1 was added gene: NDUFA1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NDUFA1 were set to 28247337; 17262856 Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | MUT |
Ellen McDonagh gene: MUT was added gene: MUT was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | ATP6AP2 |
Ellen McDonagh gene: ATP6AP2 was added gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 23595882 Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | WDR45 |
Ellen McDonagh gene: WDR45 was added gene: WDR45 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: WDR45 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: WDR45 were set to 23435086; 22892189; 23176820 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | TAF1 |
Ellen McDonagh gene: TAF1 was added gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: TAF1 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: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | SLC2A1 |
Ellen McDonagh gene: SLC2A1 was added gene: SLC2A1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | RAB39B |
Ellen McDonagh gene: RAB39B was added gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: RAB39B 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: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831 Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | PRKRA |
Ellen McDonagh gene: PRKRA was added gene: PRKRA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261 Phenotypes for gene: PRKRA were set to Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PDHA1 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: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency 312170 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | LRRK2 |
Ellen McDonagh gene: LRRK2 was added gene: LRRK2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRRK2 were set to 28395803; 28395805; 27090875; 25391693; 28395802; 28395804 Phenotypes for gene: LRRK2 were set to LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant Mode of pathogenicity for gene: LRRK2 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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| Adult onset dystonia, chorea or related movement disorder v0.2 | ISCA-37468-Loss |
Ellen McDonagh Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621 Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | CHCHD2 |
Ellen McDonagh gene: CHCHD2 was added gene: CHCHD2 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 26067110; 26067114; 25662902 Phenotypes for gene: CHCHD2 were set to 616710; Parkinson disease 22, autosomal dominant |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 28332767; 24011989 Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | AP1S2 |
Ellen McDonagh gene: AP1S2 was added gene: AP1S2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445 Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 20362274 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816 |
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