Neurodegenerative disorders, adult onset

Gene: SYT2

I don't know

Monoallelic variants in SYT2 are associated with autosomal dominant presynaptic congenital myasthenic syndrome-7A and distal motor neuropathy (CMS7A) in OMIM (MIM #616040), but has not yet been associated with relevant phenotypes in Gene2Phenotype.

As reviewed by Oliver Ziff, adult patients with SYT2-related disease may present with progressive motor weakness, distal muscle wasting and absent reflexes, potentially prompting consideration of an lower motor neuron (LMN) disorder (PMID 26519543, 30533528).

NHS England review is ongoing to determine whether SYT2 falls within the intended scope of the adult-onset neurodegenerative disorders panel, based on its diagnostic utility as a potential lower-motor-neuron-predominant MND mimic rather than an established association with adult-onset MND.

Created: 6 Oct 2026, 3:27 p.m. | Last Modified: 6 Oct 2026, 3:27 p.m.

Panel Version: 9.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (OMIM:616040)

Publications

• 26519543
• 30533528

Presents as a slowly progressive distal motor neuropathy and LMN syndrome mimicking PMA. mimics LMN-predominant MND, necessitating upfront R460.1 screening.
Sources: Expert Review, Literature

Created: 22 May 2026, 1:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, distal hereditary motor, OMIM:158590; Progressive muscular atrophy, OMIM:105400

Publications

• 26519543
• 30533528

Mode of pathogenicity
Other