Ataxia and cerebellar anomalies - narrow panel

Gene: NUS1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:10 p.m. | Last Modified: 24 Feb 2025, 5:10 p.m.

Panel Version: 7.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (~10 unrelated patients and functional evidence) for the association of this gene with ataxia. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 12 Nov 2024, 9:47 p.m. | Last Modified: 12 Nov 2024, 9:47 p.m.

Panel Version: 7.6

PMID:31656175 reported two unrelated patients with a novel de novo NUS1 variant and they presented with epileptic seizures with involuntary movement, ataxia, intellectual disability and scoliosis.

PMID:32485575 reported the identification of a novel heterozygous frameshift variant in NUS1 gene in five patients from a family with epilepsy. They all had cerebellar ataxia and tremor.

PMID:32959737 reported a 34-year-old female with NUS1 variant with a prominent and progressive generalised dystonia. She developed a slight head tremor at 18 months of age. Intellectual disability was diagnosed by second grade. She developed a mild but progressive gait ataxia, dysarthria, and dyscoordination of the hands.

PMID:33731878 reported three patients with de novo heterozygous NUS1 variants, of which two patients presented with ataxia. The third patient had no ataxia but was noted to have dysarthria. There is also functional evidence available from patient fibroblasts and zebrafish models.

PMID:38291835 reported five unrelated patients with NUS1 variants. They had onset of movement disorders ranging from birth to 13 years of age and four of them had mild gait ataxia.
Sources: Literature

Created: 12 Nov 2024, 9:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hereditary ataxia, MONDO:0100309

Publications

• 31656175
• 32485575
• 32959737
• 33731878
• 38291835