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  2. Fetal anomalies
  3. SEC23A
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Fetal anomalies

Gene: SEC23A

Amber List (moderate evidence)
SEC23A (Sec23 homolog A, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000100934
EnsemblGeneIds (GRCh37): ENSG00000100934
OMIM: 610511, Gene2Phenotype
SEC23A is in 5 panels

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

Tessa Homfray (Consultant HNS)

I don't know

Acts as a vital part of the COPII machinery responsible for cargo selection and the physical budding of transport vesicles from the ER membrane.craniolenticulosutural dysplasia Good phenotype and could present antenatally. (21039434) father carrier but lots of work on mutation. Probable digenic so difficult. Austrlian have in green in one panel but will include as Amber.
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
Craniolenticulosutural dysplasia, OMIM:607812; craniolenticulosutural dysplasia, MONDO:0011911

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
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Craniolenticulosutural dysplasia, OMIM:607812
  • craniolenticulosutural dysplasia, MONDO:0011911
OMIM
610511
Clinvar variants
Variants in SEC23A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: SEC23A was added gene: SEC23A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 16980978; 38275611; 16980979; 21039434; 34580982; 26494538; 37828500; 27148587 Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, OMIM:607812; craniolenticulosutural dysplasia, MONDO:0011911