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Dystonia - isolated/combined

Gene: TAF1

No list
TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added as an STR to the panel
Created: 28 Aug 2021, 10:25 a.m. | Last Modified: 28 Aug 2021, 10:25 a.m.
Panel Version: 1.7
Created: 28 Aug 2021, 10:25 a.m.
Last Modified: 28 Aug 2021, 10:25 a.m.
Panel version: 1.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Founder Filipino variant: short interspersed nuclear element, variable number of tandem repeats, and Alu composite retrotransposon insertion in an intron. This would be difficult to detect by most NGS assays. Note SNVs in this gene are associated with intellectual disability.
Created: 27 Oct 2020, 9:42 a.m. | Last Modified: 27 Oct 2020, 9:42 a.m.
Panel Version: 0.18

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dystonia-Parkinsonism, X-linked, MIM# 314250

Publications

Created: 27 Oct 2020, 9:42 a.m.
Last Modified: 27 Oct 2020, 9:42 a.m.
Panel version: 0.18

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
deep intronic founder
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2021, Gel status: 0

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: TAF1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: taf1 has been removed from the panel.

27 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1 has been classified as Amber List (Moderate Evidence).

27 Oct 2020, Gel status: 2

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: TAF1. Tag founder tag was added to gene: TAF1.

27 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF1 were set to

27 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1 has been classified as Amber List (Moderate Evidence).

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TAF1 was added gene: TAF1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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) Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)