Dystonia - childhood onset
Gene: TAF1

TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 8 panels

0 reviews

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Amber

Phenotypes

Dystonia-Parkinsonism, X-linked, 314250
(NB complex mutation)

OMIM

313650

Clinvar variants

Variants in TAF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TAF1 was added gene: TAF1 was added to Dystonia - childhood onset. 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; 23184149; 26879577; 26637982; 2368812; 20301334; 17273961; 26769797 Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)