| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.27 | THAP1 | Alison Yeung Mode of inheritance for gene: THAP1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.26 | THAP1 | Alison Yeung Marked gene: THAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.26 | THAP1 | Alison Yeung Gene: thap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.26 | THAP1 | Alison Yeung Publications for gene: THAP1 were set to 21793105; 22377579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.25 | THAP1 | Alison Yeung Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.24 | THAP1 |
Michelle Torres edited their review of gene: THAP1: Added comment: Monoallelic is well established with reduced penetrance. Biallelic was seen in 3 families with severe and early onset dystonia: PMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness). PMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected. PMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.; Changed publications: 36205328, 21425335, 20211909; Changed phenotypes: Dystonia 6, torsion, (MIM#60262); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Dystonia - isolated/combined v1.24 | THAP1 | Michelle Torres commented on gene: THAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.31 | THAP1 | Zornitza Stark Marked gene: THAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.31 | THAP1 | Zornitza Stark Gene: thap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.31 | THAP1 | Zornitza Stark Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.30 | THAP1 | Zornitza Stark Publications for gene: THAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.29 | THAP1 | Ain Roesley reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, (MIM#60262); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.0 | THAP1 |
Bryony Thompson gene: THAP1 was added gene: THAP1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia |
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