Genes in panel

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
OMIM
182790
Clinvar variants
Variants in SPTBN1
Penetrance
None
Panels with this gene

History Filter Activity

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