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Fetal anomalies

Gene: SPTBN1

Amber List (moderate evidence)
SPTBN1 (spectrin beta, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000115306
EnsemblGeneIds (GRCh37): ENSG00000115306
OMIM: 182790, Gene2Phenotype
SPTBN1 is in 4 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

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

DD, impaired speech and behavioural abnormalities. Also dysmorphism, seizures, hypotonia, hearing loss. Cousins et al 2021 - 29 mostly de novo pts. 7 had MRI findings - 3 with thinning of CC, 2 with VM, 2 with delayed myelination, 2 with mild cerebral, cerebellar and vermian atrophy. Onset not always clear but some documented to be acquired. Mouse work suggesting gene disrupts cortical and CC development.
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
Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475

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
  • Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475
OMIM
182790
Clinvar variants
Variants in SPTBN1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475 for gene: SPTBN1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SPTBN1 was added gene: SPTBN1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted