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DDG2P

Gene: SYP

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED SYP-RELATED 300802
OMIM
313475
Clinvar variants
Variants in SYP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SYP was added gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SYP were set to 19377476 Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802