Adult onset neurodegenerative disorder
Gene: SYT2

SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 8 panels

1 review

Oliver Ziff (University College London)

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

Mode of pathogenicity
Other

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

Panel version: 9.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

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

OMIM

600104

Clinvar variants

Variants in SYT2

Penetrance

Complete

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

gene: SYT2 was added gene: SYT2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Neuropathy, distal hereditary motor, OMIM:158590; Progressive muscular atrophy, OMIM:105400 Penetrance for gene: SYT2 were set to Complete Mode of pathogenicity for gene: SYT2 was set to Other

Adult onset neurodegenerative disorder Gene: SYT2