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  3. SCNM1
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Fetal anomalies

Gene: SCNM1

Green List (high evidence)
SCNM1 (sodium channel modifier 1)
EnsemblGeneIds (GRCh38): ENSG00000163156
EnsemblGeneIds (GRCh37): ENSG00000163156
OMIM: 608095, Gene2Phenotype
SCNM1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
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: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Red on DDG2P UK panel app, green on Aus panel app inc FA. 36084634 Three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly & cleft palate. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous. 41291844 5 probands across 3 families all homozygous. Phenotype synopsis all 9- cleft 6/9, bilateral postaxial polydactyly of hands and feet 8/8. brain MRI anomalies (ventriculomegaly and cochleovestibular malformations, prominent lateral ventricles 4/8, talipes equinovarus 3.8, mild polyhydramnios 1 case. Green
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XIX; OMIM:620107

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XIX
  • OMIM:620107
OMIM
608095
Clinvar variants
Variants in SCNM1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Orofaciodigital syndrome XIX; OMIM:620107 for gene: SCNM1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SCNM1 was added gene: SCNM1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal