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Mendeliome

Gene: TAF11

Red List (low evidence)

TAF11 (TATA-box binding protein associated factor 11)
EnsemblGeneIds (GRCh38): ENSG00000064995
EnsemblGeneIds (GRCh37): ENSG00000064995
OMIM: 600772, Gene2Phenotype
TAF11 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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: Literature
Created: 5 Feb 2025, 3:30 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 Mendeliome. 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