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Prepair 1000+

Gene: SYP

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Appropriate for inclusion.
Created: 16 Jan 2025, 3:27 a.m. | Last Modified: 16 Jan 2025, 3:27 a.m.
Panel Version: 1.1011

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

Phenotypes
Intellectual developmental disorder, X-linked 96 (MIM#300802)

Ee Ming Wong (Victorian Clinical Genetics Services)

I don't know

ClinVar: 1x splice (de novo), 1 elongation fs ((Global developmental delay (present)), 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

OMIM: mild to moderate ID, epilepsy in some individuals. Unclear if severe enough to be included in gene panel. No other reports found
Created: 14 Jan 2025, 2:26 a.m. | Last Modified: 14 Jan 2025, 2:26 a.m.
Panel Version: 1.992

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

Phenotypes
Intellectual developmental disorder, X-linked 96 (MIM#300802)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 96 (MIM#300802)
OMIM
313475
Clinvar variants
Variants in SYP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96 (MIM#300802)

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYP were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYP was added gene: SYP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 96, 300802 (3)