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Regression
Gene: THAP1

THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a progressive neurodevelopmental phenotype. Isolated torsion dystonia which generalises. Mean age of onset is 17-19yo, reduced penetrance.
Created: 28 Apr 2021, 8 a.m. | Last Modified: 28 Apr 2021, 8 a.m.

Panel Version: 0.298

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 6, torsion, 602629; MONDO:0011264

Publications

Created: 28 Apr 2021, 8 a.m.
Last Modified: 28 Apr 2021, 8 a.m.
Panel version: 0.298

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Dystonia 6, torsion, 602629
MONDO:0011264

OMIM

Clinvar variants

Variants in THAP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thap1 has been classified as Red List (Low Evidence).

28 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264

28 Apr 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THAP1 were set to

28 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thap1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THAP1 was added gene: THAP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: THAP1 was set to Unknown