Fetal anomalies
Gene: ZNF865

ZNF865 (zinc finger protein 865)
EnsemblGeneIds (GRCh38): ENSG00000261221
EnsemblGeneIds (GRCh37): ENSG00000261221
ZNF865 is in 4 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

PMID: 40936200 Bradbrook et al., 2025 Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies. On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly - may be detected prenatally?. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears. 14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.
This gene is not yet linked to any phenotype in OMIM (accessed 30th Dec 2025).
Sources: Literature
Created: 10 Mar 2026, 1:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

40936200

Created: 10 Mar 2026, 1:41 p.m.

Panel version: 6.151

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

neurodevelopmental disorder, MONDO:0700092

Clinvar variants

Variants in ZNF865

Penetrance

None

Publications

40936200

Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: ZNF865 was added gene: ZNF865 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF865 were set to 40936200 Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: ZNF865 was set to GREEN

Fetal anomalies Gene: ZNF865