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  3. SPTBN1
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Early onset or syndromic epilepsy

Gene: SPTBN1

Green List (high evidence)
SPTBN1 (spectrin beta, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000115306
EnsemblGeneIds (GRCh37): ENSG00000115306
OMIM: 182790, Gene2Phenotype
SPTBN1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Created: 1 Feb 2023, 9:39 a.m.
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29

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, 2:55 p.m. | Last Modified: 13 Jul 2021, 2:55 p.m.
Panel Version: 2.391
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

Created: 13 Jul 2021, 2:54 p.m.

Panel version: 2.390

Details

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

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: SPTBN1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SPTBN1. Source NHS GMS was added to SPTBN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 Genetic epilepsy syndromes. 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