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Fetal anomalies

Gene: COPZ1

Red List (low evidence)
COPZ1 (coatomer protein complex subunit zeta 1)
EnsemblGeneIds (GRCh38): ENSG00000111481
EnsemblGeneIds (GRCh37): ENSG00000111481
OMIM: 615472, Gene2Phenotype
COPZ1 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

Red List (low evidence)

OMIM entry for SCN12 which is characterized by onset of recurrent severe infections in the first month of life. Publication (39642330) reported that autosomal recessive mutations in the COPZ1 gene cases congenital neutropenia. A stop-codon COPZ1 mutation and a missense mutation were found in 3 patients from 2 unrelated families. 2 affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia that involves other hematologic lineages and nonhematologic tissues. The patient with a missense variant had isolated neutropenia. Both mutations were localized to a highly conserved region. The resulting truncated COPZ1 protein was predicted to display diminished interaction with its COPI complex partner, COPG1. Family 1 two affected siblings with a homozygous stop-codon mutation NM_016057:c.421C>T, NP_057141:p.Gln141Ter. Family 2 1 case of homozygous missense mutation NM_016057:c.394G>C, NP_057141:p.Gly132Arg. More severe phenotype with the homozygous stop codon mutation than the homozygous missense variant. Some supportive functional data, animal models used zebrafish embryos. No prenatal phenotype.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439; neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439
  • neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936
OMIM
615472
Clinvar variants
Variants in COPZ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: COPZ1 was added gene: COPZ1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPZ1 were set to 39642330 Phenotypes for gene: COPZ1 were set to Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439; neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936