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  3. ZNF808
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Fetal anomalies

Gene: ZNF808

Red List (low evidence)
ZNF808 (zinc finger protein 808)
EnsemblGeneIds (GRCh38): ENSG00000198482
EnsemblGeneIds (GRCh37): ENSG00000198482
ZNF808 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red 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

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Red List (low evidence)

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
Gene-disease: biallelic LOF variants linked with neonatal diabetes in 2 papers (15 individuals in 13 families). Green on Neonatal Diabetes panel. PMID: 37973953: 13 unrelated individuals with homozygous LOF variants and pancreatic agenesis (defined by neonatal diabetes diagnosed before 6?months, and exocrine pancreatic insufficiency), supported by functional studies (hESC and iPSCs) PMID: 37308312: 3 siblings with homozygous LOF variants and neonatal diabetes, but abnormal endocrine function(as supported by low serum C-peptide level) and normal exocrine phenotype, which is not consistent with pancreatic agenesis. No prenatal presentation reported
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic agenesis 3

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pancreatic agenesis 3
Clinvar variants
Variants in ZNF808
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ZNF808 was added gene: ZNF808 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF808 were set to 37308312; 37973953 Phenotypes for gene: ZNF808 were set to Pancreatic agenesis 3