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Fetal anomalies

Gene: POU3F3

Amber List (moderate evidence)
POU3F3 (POU class 3 homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000198914
EnsemblGeneIds (GRCh37): ENSG00000198914
OMIM: 602480, Gene2Phenotype
POU3F3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in ID panel. Mainly ID phenotype. PMID 31303265 in total, brain anomalies were reported in 7 of the 11 individuals (64%) in which a brain MRI was performed. Anomalies observed in at least two individuals were delayed myelination, cerebral atrophy, and corpus callosum abnormalities. Although growth parameters were generally normal, small hands with short and broad digits, especially broad thumbs, as well as flat feet and high-arched feet were reported in some of the individuals. The cupped, prominent, and often low-set ears, present in 16 of the 19 individuals (84%), were most remarkable. Other common facial features included full lips, an open-mouth appearance, a broad and bulbous nasal tip, hypertelorism, epicanthal folds, and peri-orbital fullness. PMID 37593446 truncating variant in fetus with transient isolated bilateral mild ventriculomegaly;
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Snijders Blok-Fisher syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Snijders Blok-Fisher syndrome
OMIM
602480
Clinvar variants
Variants in POU3F3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: POU3F3 was added gene: POU3F3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POU3F3 were set to 37593446; 31303265 Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome