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Fetal anomalies

Gene: ZNRF3

Amber List (moderate evidence)
ZNRF3 (zinc and ring finger 3)
EnsemblGeneIds (GRCh38): ENSG00000183579
EnsemblGeneIds (GRCh37): ENSG00000183579
OMIM: 612062, Gene2Phenotype
ZNRF3 is in 4 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

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

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
Variants in 11 families (10 de novo in proband, 1 de novo in father of proband). Missense variants in the RING ligase domain with dominant negative effect associated with macrocephalic neurodevelopmental disorder, with congenital heart defects in 2 cases. Two LoF variants and inherited in-frame single-exon deletion associated with variable heart, adrenal, or nephrotic problems with no neurodevelopmental disorder. No information on prenatal history.
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, imprinted status unknown

Phenotypes
Complex neurodevelopmental disorder

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, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Complex neurodevelopmental disorder
OMIM
612062
Clinvar variants
Variants in ZNRF3
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: ZNRF3 was added gene: ZNRF3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to Complex neurodevelopmental disorder