Dystonia - isolated/combined
Gene: THAP1EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 5 panels
2 reviews
Michelle Torres (Victorian Clinical Genetics Services)
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.Created: 3 Nov 2022, 3:35 a.m. | Last Modified: 3 Nov 2022, 3:35 a.m.
Panel Version: 1.24
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 6, torsion, (MIM#60262)
Publications
Ain Roesley (Victorian Clinical Genetics Services)
>90 variants reported with a mean age of onset 17-19 years old. Reduced penetrance ~ 50-60%Created: 28 Apr 2021, 12:25 a.m. | Last Modified: 28 Apr 2021, 12:25 a.m.
Panel Version: 0.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 6, torsion, (MIM#60262)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Dystonia 6, torsion, 602629
- Dystonia
- MONDO:0011264
- OMIM
- 609520
- Clinvar variants
- Variants in THAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)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
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: thap1 has been classified as Green List (High Evidence).
Set publications
Alison Yeung (Victorian Clinical Genetics Services)Publications for gene: THAP1 were set to 21793105; 22377579
Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thap1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: THAP1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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