1. Panels
  2. Ataxia and cerebellar anomalies - narrow panel
  3. ZNF865
Genes in panel
Prev Next

Ataxia and cerebellar anomalies - narrow panel

Gene: ZNF865

Amber List (moderate evidence)
ZNF865 (zinc finger protein 865)
EnsemblGeneIds (GRCh38): ENSG00000261221
EnsemblGeneIds (GRCh37): ENSG00000261221
ZNF865 is in 2 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. 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: 30 Dec 2025, 11:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 30 Dec 2025, 11:31 a.m.

Panel version: 8.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q4_25_promote_green
Clinvar variants
Variants in ZNF865
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q4_25_promote_green tag was added to gene: ZNF865.

30 Dec 2025, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: znf865 has been classified as Amber List (Moderate Evidence).

30 Dec 2025, 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 Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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