Activity
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| Childhood onset dystonia, chorea or related movement disorder v8.3 | NTN1 | Ida Ertmanska Classified gene: NTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v8.3 | NTN1 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v8.3 | NTN1 | Ida Ertmanska Gene: ntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v8.2 | NTN1 |
Ida Ertmanska gene: NTN1 was added gene: NTN1 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Q2_26_promote_green tags were added to gene: NTN1. Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTN1 were set to 28945198; 33472083 Phenotypes for gene: NTN1 were set to Mirror movements 4, OMIM:618264; mirror movements 4, MONDO:0032641 Review for gene: NTN1 was set to GREEN Added comment: 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 |
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