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  2. Fetal anomalies
  3. SMARCA1
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Fetal anomalies

Gene: SMARCA1

Amber List (moderate evidence)
SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)
EnsemblGeneIds (GRCh38): ENSG00000102038
EnsemblGeneIds (GRCh37): ENSG00000102038
OMIM: 300012, Gene2Phenotype
SMARCA1 is in 2 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 Canham (Liverpool Women's Hospital)

I don't know

single paper, but 35 individuals (26 families). Some reported with hydrocephalus but not clear whether pre- or postnatal. No other prenatal presentation?
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
neurodevelopmental disorder, MONDO:0700092

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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
300012
Clinvar variants
Variants in SMARCA1
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: SMARCA1 was added gene: SMARCA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMARCA1 were set to 41213919 Phenotypes for gene: SMARCA1 were set to neurodevelopmental disorder, MONDO:0700092