1. Panels
  2. Fetal anomalies
  3. ZNHIT3
Genes in panel
Prev Next

Fetal anomalies

Gene: ZNHIT3

Amber List (moderate evidence)
ZNHIT3 (zinc finger HIT-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000273611
EnsemblGeneIds (GRCh37): ENSG00000108278
OMIM: 604500, Gene2Phenotype
ZNHIT3 is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Upgraded from Red to Amber, 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
PMID: 39252897 - two fetuses from same family who presented with isolated hydrops during the early second trimester of pregnancy, resulting in intrauterine demise. Autopsy revealed no associated malformation. Compound heterozygous variants c.40T>C p.Cys14Arg and c.251_254delAAGA, the latter producting a stable truncated protein. PMID: 28335020 - homozygous p.Ser31Leu associated with progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome in 24 Finnish patients. Further evidence needed for association with hydrops.
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
PEHO syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

Red List (low evidence)

Red on optic neuropathy, microcephaly & lymphodema panels. 27 patients but one single Finnish variant which is why red reviews. PMID:31048081 - one new patient with compound het Finnish variant and one other missense. Brain findings are progressive. Demyelination. Oedema in majority of patients. No info on if prenatal onset in papers.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome, OMIM:260565

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • PEHO syndrome, OMIM:260565
  • PEHO syndrome
OMIM
604500
Clinvar variants
Variants in ZNHIT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to ZNHIT3. Added phenotypes PEHO syndrome for gene: ZNHIT3 Publications for gene: ZNHIT3 were updated from 28335020; 31048081 to 39252897; 28335020; 31048081 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZNHIT3 was added gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNHIT3 were set to 28335020; 31048081 Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565