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Mendeliome

Gene: SYP

Green List (high evidence)

SYP (synaptophysin)
EnsemblGeneIds (GRCh38): ENSG00000102003
EnsemblGeneIds (GRCh37): ENSG00000102003
OMIM: 313475, Gene2Phenotype
SYP is in 5 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

ClinVar: 1 elongation fs, 1 miss
Tarpey (2009): 2 additional PTCs (NMD pred)
DECIPHER: 1x PTC (p.W228*), maternally inherited

Gorden and Cousins (2013):
- transfected null cells with missense/PTCs show protein mislocalization -> LOF
- PTCs transfected in wt cells affected function -> DN
- transfecting missense variant into K/O neurons could rescue endocytosis rate.
Created: 19 Jul 2021, 3:58 a.m. | Last Modified: 19 Jul 2021, 3:58 a.m.
Panel Version: 0.8445

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 96 MIM#300802

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 96 MIM#300802
OMIM
313475
Clinvar variants
Variants in SYP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syp has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYP were changed from to Mental retardation, X-linked 96 MIM#300802

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYP were set to

15 Feb 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SYP was changed from to None

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYP was added gene: SYP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SYP was set to Unknown