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Intellectual disability

Gene: TAF6

Green List (high evidence)

TAF6 (TATA-box binding protein associated factor 6)
EnsemblGeneIds (GRCh38): ENSG00000106290
EnsemblGeneIds (GRCh37): ENSG00000106290
OMIM: 602955, Gene2Phenotype
TAF6 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert review, who notes that there are 3 unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Created: 18 Jul 2018, 3:07 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals from 3 unrelated families with bi-allelic variants reported in the literature. ID is part of the phenotype.
Created: 22 Jun 2018, 2:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alazami-Yuan syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Alazami-Yuan syndrome, 617126
  • Intellectual disability
OMIM
602955
Clinvar variants
Variants in TAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TAF6.

18 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: taf6 has been classified as Green List (High Evidence).

18 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TAF6 were set to 25558065; 25574841

18 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TAF6 were set to Alazami-Yuan syndrome, 617126; Intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

TAF6 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

TAF6 was created by Zornitza Stark