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Fetal anomalies

Gene: TAF4

Amber List (moderate evidence)
TAF4 (TATA-box binding protein associated factor 4)
EnsemblGeneIds (GRCh38): ENSG00000130699
EnsemblGeneIds (GRCh37): ENSG00000130699
OMIM: 601796, Gene2Phenotype
TAF4 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Bertoli-Avella et al, 2021: report 1 patient with de novo LoF variants with prenatal structural anomaly (raised NT) + Abnormal facial shape, Global developmental delay, Intellectual disability, Neonatal onset, Premature birth, Short stature. Janssen et al, 2022: eight individuals, each carrying de novo putative loss_of_function (pLoF) variants in TAF4 and neurodevelopmental disorder. No clearly documented prenatal phenotypes. Only structural anomalies described postnatally that might have been visible on antenatal scans are cleft palate in 1/8 + brain in 3/8: cerebellar vermian hypoplasia, prominant sulci cerebellum + 4th ventricle, mall, dysplastic ossicular chains bilaterally. 2 with aortic dilatation but unsure when this started. Heidargholizadeh et al 2026: propose TAF4 as candidate gene for congenital diaphragmatic hernia. Single fetus with CDH = prominent heels and micrognathia, HOMOZYGOUS missense in TAF4. NO functional studies.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual developmental disorder, autosomal dominant 73, MONDO:0957536; Intellectual developmental disorder, autosomal dominant 73, OMIM:620450

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • intellectual developmental disorder, autosomal dominant 73, MONDO:0957536
  • Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
OMIM
601796
Clinvar variants
Variants in TAF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: TAF4 was added gene: TAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 41454640; 28191890; 35904126; 33875846 Phenotypes for gene: TAF4 were set to intellectual developmental disorder, autosomal dominant 73, MONDO:0957536; Intellectual developmental disorder, autosomal dominant 73, OMIM:620450