Clefting disorders
Gene: TAF11
TAF11 (TATA-box binding protein associated factor 11)
EnsemblGeneIds (GRCh38): ENSG00000064995
EnsemblGeneIds (GRCh37): ENSG00000064995
OMIM: 600772, Gene2Phenotype
TAF11 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000064995
EnsemblGeneIds (GRCh37): ENSG00000064995
OMIM: 600772, Gene2Phenotype
TAF11 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 individuals in a single Chinese family with nonsyndromic cleft lip segregating with the missense p.Leu48Phe. The missense has an AF of 1.8% (including 15 homozygotes) in gnomAD v4 in the East Asian population, which is too common for an autosomal dominant disease—also, a supporting zebrafish model with craniofacial abnormalities (however the genetic evidence for this GDA is lacking).
Sources: LiteratureCreated: 5 Feb 2025, 3:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cleft lip MONDO:0004747
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- cleft lip MONDO:0004747
- OMIM
- 600772
- Clinvar variants
- Variants in TAF11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Feb 2025, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: taf11 has been classified as Red List (Low Evidence).
5 Feb 2025, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TAF11 was added gene: TAF11 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: TAF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF11 were set to 39727181 Phenotypes for gene: TAF11 were set to cleft lip MONDO:0004747 Review for gene: TAF11 was set to RED