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Intellectual disability syndromic and non-syndromic

Gene: TAF1

Green List (high evidence)

TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 31646703: Review of additional 27 families. Phenotypes associated with TAF1 variants show considerable pleiotropy and clinical variability, but prominent among previously unreported effects were brain morphological abnormalities, seizures, hearing loss, and heart malformations.
Created: 21 Apr 2020, 11:40 p.m. | Last Modified: 21 Apr 2020, 11:40 p.m.
Panel Version: 0.2582

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

Phenotypes
Mental retardation, X-linked, syndromic 33, MIM# 300966

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked, syndromic 33, MIM# 300966
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf1 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF1 were changed from to Mental retardation, X-linked, syndromic 33, MIM# 300966

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF1 were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAF1 was added gene: TAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF1 was set to Unknown