Paediatric motor neuronopathies
Gene: SYT2EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 7 panels
2 reviews
Pinki Munot (Consultant )
only a single familyCreated: 2 Mar 2017, 7:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
distal motor neurnopathy
Alice Gardham (Genomics England)
Incorrect phenotypeCreated: 26 Jan 2017, 11:53 a.m.
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 600104
- Clinvar variants
- Variants in SYT2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)SYT2 was added to Paediatric motor neuronopathiespanel. Sources: Expert