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Intellectual disability syndromic and non-syndromic

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 5 Jun 2021, 1:19 a.m. | Last Modified: 5 Jun 2021, 1:19 a.m.
Panel Version: 0.3803

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alazami-Yuan syndrome, MIM# 617126

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Alazami-Yuan syndrome, MIM# 617126
OMIM
602955
Clinvar variants
Variants in TAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF6 were changed from Alazami-Yuan syndrome, MIM# 617126 to Alazami-Yuan syndrome, MIM# 617126

5 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF6 were changed from to Alazami-Yuan syndrome, MIM# 617126

5 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF6 were set to

5 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAF6 was added gene: TAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF6 was set to Unknown