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Early onset or syndromic epilepsy v2.492 | NUS1 | Arina Puzriakova Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa OMIM:617082; Mental retardation, autosomal dominant 55, with seizures OMIM:617831; Abnormality of extrapyramidal motor function to Mental retardation, autosomal dominant 55, with seizures, OMIM:617831; Congenital disorder of glycosylation, type 1aa, OMIM:617082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.211 | NUS1 | Eleanor Williams Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831; Abnormality of extrapyramidal motor function to ?Congenital disorder of glycosylation, type 1aa OMIM:617082; Mental retardation, autosomal dominant 55, with seizures OMIM:617831; Abnormality of extrapyramidal motor function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.210 | NUS1 | Eleanor Williams Publications for gene: NUS1 were set to 25066056; 29100083; 24824130; 30348779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.209 | NUS1 | Eleanor Williams edited their review of gene: NUS1: Added comment: 2 further heterozygous cases reported by Den et al 2019 (PMID: 31656175). 2 unrelated Japanese patients with a novel, recurrent, de novo NUS1 variant, who presented with epileptic seizures with involuntary movement, ataxia, intellectual disability and scoliosis. The variant c.691 + 1C > A, creates a new splice donor site resulting in a 91 bp deletion in exon 3.; Changed publications: 25066056, 29100083, 24824130, 30348779, 31656175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.331 | NUS1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.330 | NUS1 | Rebecca Foulger Source NHS GMS was added to NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.323 | NUS1 | Rebecca Foulger Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.322 | NUS1 | Rebecca Foulger Classified gene: NUS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.322 | NUS1 | Rebecca Foulger Gene: nus1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.321 | NUS1 | Rebecca Foulger commented on gene: NUS1: Updated rating from Amber to Green based on Green post-Webex review from Helen Lord. Also updated MOI from 'monoallelic' to 'BOTH monoallelic and biallelic' based on Helen's review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.317 | NUS1 | Rebecca Foulger Phenotypes for gene: NUS1 were changed from #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function to ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831; Abnormality of extrapyramidal motor function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.262 | NUS1 | Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.261 | NUS1 | Helen Lord reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.30 | NUS1 | Eleanor Williams Classified gene: NUS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.30 | NUS1 | Eleanor Williams Gene: nus1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.29 | NUS1 | Eleanor Williams Added comment: Comment on mode of inheritance: A single family with a biallelic pattern is also reported. Further cases advised to confirm MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.29 | NUS1 | Eleanor Williams Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.28 | NUS1 | Eleanor Williams commented on gene: NUS1: Following review by the Genomics England clinical team it was decided to rate this gene amber on the Genetic epilepsy syndromes panel at this time. Evidence is most compelling for an epilepsy phenotype associated with heterozygous LOF de novo variants at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.28 | NUS1 |
Eleanor Williams commented on gene: NUS1: NUS1 is associated with Mental retardation, autosomal dominant 55, with seizures (AD inheritance) and ?Congenital disorder of glycosylation, type 1aa (AR inheritance) in OMIM. It is associated with Epilepsy and intellectual disability in Gene2Phenotype (probable) with monoallelic inheritance. PMID: 25066056 (Park et al 2014) - 2 sibs, born of unrelated Czech parents of Roma descent, with congenital disorder of glycosylation type Iaa - a homozygous missense mutation in the NUS1 gene (p.Arg290His (R290H), which is located in the evolutionarily conserved C-terminal domain of NgBR) . The siblings presented with congenital scoliosis, severe neurological impairment, refractory epilepsy, hearing deficit and visual impairment with discrete bilateral macular lesions. Functional studies with WT and mutant fibroblasts show that fibroblasts isolated from patients exhibit reduced dolichol profiles and enhanced accumulation of free cholesterol identically to fibroblasts from mice lacking NgBR. PMID: 29100083 (Hamdan et al 2017) - performed whole-genome sequencing (WGS) on 197 developmental and epileptic encephalopathy individuals and their unaffected parents. 3 unrelated individuals identified with de novo changes in NUS1 - p.Asp248Alafs), p.Val48Profs)∗7, exon 2 deletion. All had seizures and mild to severe ID. |
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Early onset or syndromic epilepsy v1.28 | NUS1 |
Eleanor Williams gene: NUS1 was added gene: NUS1 was added to Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NUS1 were set to 25066056; 29100083; 24824130; 30348779 Phenotypes for gene: NUS1 were set to #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function Review for gene: NUS1 was set to AMBER Added comment: Adding NUS1 to this panel following review of the gene by Konstantinos Varvagiannis on the Intellectual Disability panel https://panelapp.genomicsengland.co.uk/panels/285/gene/NUS1/. Sources: Expert Review |