Ataxia - paediatric
Gene: NUS1EnsemblGeneIds (GRCh38): ENSG00000153989
EnsemblGeneIds (GRCh37): ENSG00000153989
OMIM: 610463, Gene2Phenotype
NUS1 is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 31656175 - 2 unrelated patients with the same de novo splice variant and ataxia. Splice variant undergoes partial NMD.
PMID: 29100083 - 3 unrelated patients w/ 2 PTCs and an inframe exon 2 deletion. Only 1/3 was reported to have ataxia
Sources: LiteratureCreated: 26 Oct 2020, 11:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epilepsy, myoclonus, ataxia and scoliosis
- Mental retardation, autosomal dominant 55, with seizures, 617831
- OMIM
- 610463
- Clinvar variants
- Variants in NUS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nus1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NUS1 were changed from Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 to Epilepsy, myoclonus, ataxia and scoliosis; Mental retardation, autosomal dominant 55, with seizures, 617831
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nus1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: NUS1 was added gene: NUS1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NUS1 were set to PMID: 31656175; 29100083 Phenotypes for gene: NUS1 were set to Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 Review for gene: NUS1 was set to GREEN