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Fetal anomalies

Gene: SYN1

Amber List (moderate evidence)

SYN1 (synapsin I)
EnsemblGeneIds (GRCh38): ENSG00000008056
EnsemblGeneIds (GRCh37): ENSG00000008056
OMIM: 313440, Gene2Phenotype
SYN1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
OMIM
313440
Clinvar variants
Variants in SYN1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SYN1 was added gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS