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  2. Fetal anomalies
  3. SEC63
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Fetal anomalies

Gene: SEC63

Red List (low evidence)
SEC63 (SEC63 homolog, protein translocation regulator)
EnsemblGeneIds (GRCh38): ENSG00000025796
EnsemblGeneIds (GRCh37): ENSG00000025796
OMIM: 608648, Gene2Phenotype
SEC63 is in 7 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

Natalie Chandler (North Thames GLH)

Red List (low evidence)

Green in cystic kdney/liver panels. Omim says adult onset. Cannot find any reports of early onset. Kidney cysts known but incidental and do not impair renal function.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
polycystic liver disease 2, MONDO:0014860; Polycystic liver disease 2, OMIM:617004

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • polycystic liver disease 2, MONDO:0014860
  • Polycystic liver disease 2, OMIM:617004
OMIM
608648
Clinvar variants
Variants in SEC63
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: SEC63 was added gene: SEC63 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC63 were set to polycystic liver disease 2, MONDO:0014860; Polycystic liver disease 2, OMIM:617004