Early onset or syndromic epilepsy
Gene: SATB1
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 to promote this gene to Green at the next major review.Created: 10 Feb 2021, 1:03 p.m. | Last Modified: 10 Feb 2021, 1:03 p.m.
Panel Version: 2.294
Currently not associated with any phenotype in OMIM (last edited: 30/09/2020) but has a 'confirmed' disease confidence rating for 'SATB1-related developmental disorder (monoallelic)' in Gene2Phenotype.
- Den Hoed et al. 2021 (PMID: 33513338) - Total of 42 individuals from 35 families with SATB1 variants (including previously reported cases) - 30 patients harboured 15 unique SATB1 missense variants, including three recurrent variants; 10 had premature protein truncating variants; and and 2 individuals carried a (partial) gene deletion. 28 variants occurred de novo, 3 were inherited from an affected parent, 5 resulted from suspected parental mosaicism (2 inherited from an unaffected parent indicating reduced penetrance), and unknown inheritance in remaining 4 variants.
Phenotypes include neurodevelopmental delay (35/36, 97%), intellectual disability (28/31, 90%), muscle tone abnormalities (abnormal tone 28/37, 76%; hypotonia 28/37, 76%; spasticity 10/36, 28%), epilepsy (22/36, 61%), facial dysmorphisms (24/36, 67%), and dental abnormalities (24/34, 71%). Variable seizure phenotypes described but multiple refractory early-onset cases.
Missense variants were associated with a more severe phenotype - for instance, 57% of individuals with a missense variant had severe/profound ID whereas this level of ID was not observed for any individuals with truncating variants.
Sources: LiteratureCreated: 10 Feb 2021, 1:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder
Publications
Tag Q2_21_rating was removed from gene: SATB1.
Source Expert Review Green was added to SATB1. Source NHS GMS was added to SATB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: satb1 has been classified as Amber List (Moderate Evidence).
gene: SATB1 was added gene: SATB1 was added to Genetic epilepsy syndromes. Sources: Literature Q2_21_rating tags were added to gene: SATB1. Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB1 were set to 33513338 Phenotypes for gene: SATB1 were set to Neurodevelopmental disorder Review for gene: SATB1 was set to GREEN