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Fetal anomalies

Gene: SYT2

Amber List (moderate evidence)
SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Bibb (C&S GLH)

I don't know

Green R80 congenital myaesthenic syndrome. PMID:25192047 - AD heterozygous missense mutations in the C2B domain in 2 multigenerational families presenting with peripheral motor neuron syndromes foot deformities in childhood including pes cavus, hammer toes ,proximal and distal limb weakness, muscle fatigue that improved with rest, mild gait difficulties. PMID:32776697 - seven patients of five families consanguineous, with homozygous biallelic loss of function variants in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. 3/7 patients reduced fetal movements prenatally- no other manifestations noted. PMID:32250532 - consanguineous patient with a severe recessive form of presynaptic CMS and denervation atrophy caused by the homozygous mutation c.1191delG, p.Arg397Serfs*37 in SYT2. prenatally only reduced fetal movements reported - Amber
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461
  • Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SYT2 was added gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040