Childhood onset dystonia, chorea or related movement disorder

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, 5:25 p.m. | Last Modified: 24 Feb 2025, 5:25 p.m.

Panel Version: 6.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the association of this gene with childhood-onset movement disorder including dystonia. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 12 Nov 2024, 9:04 p.m. | Last Modified: 12 Nov 2024, 9:04 p.m.

Panel Version: 6.3

PMID:32334381 reported a patient with childhood onset static and focal upper limb dystonia and was diagnosed with a monoallelic NUS1 variant via WES.

PMID:32959737 reported a 34-year-old patient with autosomal dominant NUS1 variant and with a prominent and progressive generalised dystonia.

PMID:38291835 reported five unrelated patients ranging from 13 to 53 years of age with monoallelic NUS1 variant. They presented with movement disorder and its onset ranged from birth to 13 years of age. Three of them had dystonia.
Sources: Literature

Created: 12 Nov 2024, 9:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
movement disorder, MONDO:0005395

Publications

• 32334381
• 32959737
• 38291835