Childhood onset dystonia, chorea or related movement disorder

Gene: NTN1

Green List (high evidence)

Comment on list classification: There are 3 unrelated individuals reported in literature with heterozygous variants in NTN1 and congenital mirror movements. A knockout mouse model supports this gene disease association. Hence, this gene should be promoted to Green at the next update.

Created: 14 May 2026, 4:54 p.m. | Last Modified: 14 May 2026, 4:54 p.m.

Panel Version: 8.3

PMID: 28945198 Meneret et al., 2017
NTN1 c.1801T>C/p.Cys601Arg variant of NTN1 segregated in a dominant manner with congenital mirror movements (CMM) in three affected members of a French family - though there were 2 asymptomatic carriers as well.
Heterozygous variant c.1552_1554del/p.Ile518del in NTN1 segregated with CMM in all 3 affected members of a family from the United Kingdom.
NTN1 variant c.1802G>C/p.Cys601Ser found in a sporadic case with CMM.

PMID: 33472083 Pourchet et al., 2021
Mouse model - a conditional ntn1 knockout in the brainstem impairs midline crossing of corticospinal axons and leads to mirror movements.
Sources: Literature

Created: 14 May 2026, 4:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mirror movements 4, OMIM:618264; mirror movements 4, MONDO:0032641

Publications

• 28945198
• 33472083