SYT2

synaptotagmin 2
OMIM: 600104, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SYT2 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
  • HMSN

Green SYT2 in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461

Green SYT2 in Fetal anomalies


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461

Green SYT2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Tags
  • treatable
  • neurological