Early onset or syndromic epilepsy
Gene: SPTBN1
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
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: LiteratureCreated: 13 Jul 2021, 2:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autosomal dominant neurodevelopmental syndrome
Publications
Tag Q3_21_rating was removed from gene: SPTBN1.
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)
Gene: sptbn1 has been classified as Amber List (Moderate Evidence).
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