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Intellectual disability

Gene: SPTBN1

Amber List (moderate evidence)

SPTBN1 (spectrin beta, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000115306
EnsemblGeneIds (GRCh37): ENSG00000115306
OMIM: 182790, Gene2Phenotype
SPTBN1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 13 Jul 2021, 2:58 p.m. | Last Modified: 13 Jul 2021, 2:58 p.m.
Panel Version: 3.1181
Not associated with a phenotype in OMIM, Gen2Phen or MONDO (as of 13/07/2021). At least 27 monoallelic variants reported in 29 individuals with neurodevelopmental abnormalities. Developmental delay was reported in 28/28 tested cases. Intellectual disabilty was reported in 21/24 tested cases (including severe in 5 cases, moderate to severe in 2 cases and moderate in 4 cases) and epilepsy/seizures was reported in 9/24 tested cases (including febrile seizures in 2 cases). Extensive supportive functional evidence was also reported (PMID 34211179).
Sources: Literature
Created: 13 Jul 2021, 2:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
autosomal dominant neurodevelopmental syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • autosomal dominant neurodevelopmental syndrome
Tags
Q3_21_rating
OMIM
182790
Clinvar variants
Variants in SPTBN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sptbn1 has been classified as Amber List (Moderate Evidence).

13 Jul 2021, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SPTBN1 was added gene: SPTBN1 was added to Intellectual disability. Sources: Literature Q3_21_rating tags were added to gene: SPTBN1. Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTBN1 were set to 34211179 Phenotypes for gene: SPTBN1 were set to autosomal dominant neurodevelopmental syndrome Review for gene: SPTBN1 was set to GREEN