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Fetal anomalies

Gene: SCN8A

Amber List (moderate evidence)
SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels

3 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

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

McNally et al, 2016: 1 case report with fetal onset of seizures. Ultrasound scans: enlarged cardiac silhouette, diffuse skin thickening, extensor posturing of lower extremities, flexor posturing of upper extremities, and a paucity of fetal movements. MRI revealed polyhydramnios, generalized anasarca, clenched hands, and knee and ankle contractures. Singh et al 2015: single case report in utero onset of movement disorder, with evolving epilepsy, epileptic encephalopathy and developmental delay. Denis et al, 2019: "2 mothershad felt abnormal fetal movements assimilated to tremorsin utero during the last trimester". Functional analyses in SCN8A well established: see Johannesen et al, 2022. Is there precedent to include fetal seizure genes on R21? If so, think should be green. If not, with only 1 fetus with structural anomalies reported, think should be 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental and epileptic encephalopathy, 13, MONDO:0013801; Developmental and epileptic encephalopathy 13, OMIM:614558

Publications

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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN8A gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA and Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Dominant negative for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, and listed as LOF for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • developmental and epileptic encephalopathy, 13, MONDO:0013801
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
  • COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
  • Developmental and epileptic encephalopathy 13, OMIM:614558
OMIM
600702
Clinvar variants
Variants in SCN8A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Amber was added to SCN8A. Source NHS GMS was added to SCN8A. Mode of inheritance for gene SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes developmental and epileptic encephalopathy, 13, MONDO:0013801; Developmental and epileptic encephalopathy 13, OMIM:614558 for gene: SCN8A Publications for gene: SCN8A were updated from to 31026061; 27659738 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SCN8A. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 for gene: SCN8A

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA