Activity
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| Early onset or syndromic epilepsy v3.30 | SATB1 | Arina Puzriakova Tag Q2_21_rating was removed from gene: SATB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | SATB1 | Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | SATB1 |
Arina Puzriakova 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) |
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| Early onset or syndromic epilepsy v2.294 | SATB1 | Arina Puzriakova Classified gene: SATB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.294 | SATB1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.294 | SATB1 | Arina Puzriakova Gene: satb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.293 | SATB1 |
Arina Puzriakova 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 Added comment: 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: Literature |
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