SYN1:Ensemblv115

synapsin I
OMIM: 313440, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SYN1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491
  • Intellectual developmental disorder, X-linked 50, MIM# 300115

Green SYN1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)

Green SYN1 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491
  • Intellectual developmental disorder, X-linked 50, MIM#300115

Green SYN1 in Prepair 500+


Level 2: Screening
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491
  • Intellectual developmental disorder, X-linked 50, MIM#300115