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Fetal anomalies

Gene: SEPHS1

Amber List (moderate evidence)
SEPHS1 (selenophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000086475
EnsemblGeneIds (GRCh37): ENSG00000086475
OMIM: 600902, Gene2Phenotype
SEPHS1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Green on ID panel. Ververi-Brady syndrome-2 (VERBRAS2) is a variable neurodevelopmental condition characterized by developmental delay, poor growth, hypotonia, and dysmorphic facial features. Mullegama et al. 2024 report 9 affected individuals from 8 families; all had heterozygouse missense variants, eight of which affected amino acid Arg371. No prenatal phenotypes reported. Dysmorphic facial features reported unlikely to be significant enough to be detected prenatally. Poor height growth and weight gain reported in 5 affected individuals, but not clear if this was restricted to postnatal growth as no information on birth weight and feeding difficulties reported.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ververi-Brady syndrome 2, OMIM:621325

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Ververi-Brady syndrome 2, OMIM:621325
OMIM
600902
Clinvar variants
Variants in SEPHS1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Ververi-Brady syndrome 2, OMIM:621325 for gene: SEPHS1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SEPHS1 was added gene: SEPHS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted