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Fetal anomalies

Gene: ZFPM2

Amber List (moderate evidence)
ZFPM2 (zinc finger protein, FOG family member 2)
EnsemblGeneIds (GRCh38): ENSG00000169946
EnsemblGeneIds (GRCh37): ENSG00000169946
OMIM: 603693, Gene2Phenotype
ZFPM2 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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
This review was provided by Alison Male from North Thames GLH: Review in 2022 amber - linked to CDH but incomplete penetrance. As common finding descision was taken to treat with caution and class as amber. PMID:34547244 - New paper since review: We have identified six ultra-rare LGD variants in ZFPM2 in our CDH cohort, accounting for 0.7% of our CDH-affected individuals (Figure S7, Table S9). Three were CDH-affected complex individuals, all with minor cardiac malformations. Specifically, two females had atrial septal defects and one male had an enlarged aortic root. The other three heterozygotes had isolated CDH. Suggest amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot, OMIM:187500; Diaphragmatic hernia 3, OMIM:610187

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber based on the evidence provided in review by Anna de Burca. Gene-disease association is classified with 'limited' confidence in G2P. Cases indicate reduced penetrance and no functional studies of variants relating to diaphragmatic hernia have been reported thus far. Gene is also associated with other phenotypes with limited support.
Created: 27 Jul 2022, 10:12 a.m. | Last Modified: 27 Jul 2022, 10:12 a.m.
Panel Version: 1.877
Created: 27 Jul 2022, 10:12 a.m.
Last Modified: 27 Jul 2022, 10:12 a.m.
Panel version: 1.877

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot.
Sources: Literature
Created: 1 Jun 2022, 4:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital diaphragmatic hernia

Publications

Created: 1 Jun 2022, 4:08 p.m.

Panel version: 1.864

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Diaphragmatic hernia 3, OMIM:610187
  • Tetralogy of Fallot, OMIM:187500
OMIM
603693
Clinvar variants
Variants in ZFPM2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ZFPM2 were set to 24702427

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ZFPM2 were changed from Diaphragmatic hernia 3, OMIM:610187 to Diaphragmatic hernia 3, OMIM:610187; Tetralogy of Fallot, OMIM:187500

27 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: zfpm2 has been classified as Amber List (Moderate Evidence).

27 Jul 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZFPM2 were changed from Congenital diaphragmatic hernia to Diaphragmatic hernia 3, OMIM:610187

1 Jun 2022, Gel status: 0

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 24702427 Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia Penetrance for gene: ZFPM2 were set to Incomplete Review for gene: ZFPM2 was set to AMBER