Early onset or syndromic epilepsy
Gene: SATB2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, noon | Last Modified: 11 Oct 2023, noon
Panel Version: 4.110
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Associated with Glass syndrome, OMIM:612313 and as definitive Gen2Phen gene for the same condition. Table 2 in PMID: 32446642 presents a clincal review of SATB2 variant carriers. Amongst the 35 cases carrying intragenic variants, 14 did not have clinical seizures, 19 had seizures (10 well controlled, 9 somewhat controlled) and the diagnosis was uncertain in two other cases.Created: 14 Mar 2023, 6:11 p.m. | Last Modified: 14 Mar 2023, 6:11 p.m.
Panel Version: 3.113
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Mar 2023, 5:37 p.m. | Last Modified: 14 Mar 2023, 5:37 p.m.
Panel Version: 3.112
In a cohort of 101 individuals with SATB2-associated syndrome, 41 had at least one prior abnormal EEG. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six individuals with definite clinical seizures needed polytherapy (35%).
Sources: LiteratureCreated: 2 Nov 2020, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glass syndrome, MIM# 612313
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_23_promote_green was removed from gene: SATB2.
Source NHS GMS was added to SATB2. Source Expert Review Green was added to SATB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SATB2 were changed from Glass syndrome, MIM# 612313 to Glass syndrome, OMIM:612313
Tag Q1_23_promote_green tag was added to gene: SATB2.
Gene: satb2 has been classified as Amber List (Moderate Evidence).
gene: SATB2 was added gene: SATB2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SATB2 were set to 32446642 Phenotypes for gene: SATB2 were set to Glass syndrome, MIM# 612313 gene: SATB2 was marked as current diagnostic