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Fetal anomalies

Gene: SYP

Red List (low evidence)

SYP (synaptophysin)
EnsemblGeneIds (GRCh38): ENSG00000102003
EnsemblGeneIds (GRCh37): ENSG00000102003
OMIM: 313475, Gene2Phenotype
SYP is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYP gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED SYP-RELATED
Created: 11 Dec 2018, 9:05 a.m.


Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Clinvar variants
Variants in SYP
Panels with this gene

History Filter Activity

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SYP. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SYP was added gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED