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Fetal anomalies

Gene: ZNF292

Amber List (moderate evidence)
ZNF292 (zinc finger protein 292)
EnsemblGeneIds (GRCh38): ENSG00000188994
EnsemblGeneIds (GRCh37): ENSG00000188994
OMIM: 616213, Gene2Phenotype
ZNF292 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

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on DDG2P & ID panel. At least 7 de novo AD variants.PMID 41153384 fetus with corpus callosum hypoplasia and dilated cerebral ventricles, short stature but later onset PMID: 40777882 no prenatal pehnotype, no MRI. Short stature postnatal onset PMID 31723249 28 caes. Brain MRI anomalies in 9/17 wuth MRIs.hypoplasia of the cerebellar vermis and hemispheres, ventriculomegaly, callosal abnormalities, and periventricular nodular heterotopia. Cardiac anomalies 5/25 no specific 2/28 Inguinal hermia, 1xsitus inversus. Probably green although phentoype is variable but has been shown to present prenatally
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 64, OMIM:619188; intellectual developmental disorder, autosomal dominant 64, MONDO:0030934

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 64, OMIM:619188
  • intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
OMIM
616213
Clinvar variants
Variants in ZNF292
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: ZNF292 was added gene: ZNF292 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF292 were set to 40777882; 31723249; 41153384 Phenotypes for gene: ZNF292 were set to Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; intellectual developmental disorder, autosomal dominant 64, MONDO:0030934