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| Intellectual disability - microarray and sequencing v2.978 | FRRS1L |
Catherine Snow Source Expert Review Amber was added to FRRS1L. Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L Publications for gene FRRS1L were changed from 27236917; 27239025; 21147040; 29276473 to 29276473; 27239025; 21147040; 27236917; 30914295 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability - microarray and sequencing v2.587 | FRRS1L |
Konstantinos Varvagiannis gene: FRRS1L was added gene: FRRS1L was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to 27236917; 27239025; 21147040; 29276473 Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37 (MIM 616981) Penetrance for gene: FRRS1L were set to Complete Review for gene: FRRS1L was set to GREEN gene: FRRS1L was marked as current diagnostic Added comment: Biallelic pathogenic variants in FRRS1L cause Epileptic encephalopathy, early infantile, 37 (EIEE37 - MIM 616981). Several individuals homozygous for LoF variants have been reported by Madeo et al. (PMID:27236917) and Shaheen et al. (PMID:27239025 - 2 individuals of this family previously published in 21147040). DD and choreoathetotic movement disorder may precede onset of seizures and subsequent regression. Intellectual disability was a universal feature. Both articles and the respective phenotype are summarized in OMIM. Extensive functional studies have been performed in the article by Madeo et al. as well as in PMID: 29276473 (Han et al.) and suggest a role in glutamatergic transmission. FRRS1L is included in the DD panel of G2P, associated with Epileptic encephalopathy with continuous spike-and-wave during sleep. This gene is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc). As a result, this gene can be considered for inclusion in the ID panel as green, if the phenotype of EIEE is thought to be relevant. Sources: Literature, Radboud University Medical Center, Nijmegen |
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