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Prepair 1000+

Gene: SYN1

Green List (high evidence)

SYN1 (synapsin I)
EnsemblGeneIds (GRCh38): ENSG00000008056
EnsemblGeneIds (GRCh37): ENSG00000008056
OMIM: 313440, Gene2Phenotype
SYN1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

X-linked intellectual developmental disorder-50 (XLID50) is a neurodevelopmental disorder characterized by impaired intellectual development accompanied variably by short stature, autistic features, and brain imaging anomalies. Seizures are not present. Carrier females may be affected.

Hemizygous mutation in the SYN1 gene also causes X-linked epilepsy with variable learning disabilities and behavior disorders, which shows overlapping features. X-linked epilepsy-1 with variable learning disabilities and behavior disorders (EPILX1) is a neurologic disorder characterized by the onset of complex partial seizures in the first or second decades. Additional spontaneous seizures and secondary generalization may also occur. Most patients have associated developmental defects, including learning disabilities, behavioral problems, or autistic features.

There is definitive evidence supporting the relationship between SYN1 and X-linked complex neurodevelopmental disorder (ClinGen). Early (childhood) onset cases have been reported with and without epilepsy.
Created: 6 Feb 2025, 2:56 a.m. | Last Modified: 6 Feb 2025, 2:56 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491
  • Intellectual developmental disorder, X-linked 50, MIM#300115
OMIM
313440
Clinvar variants
Variants in SYN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syn1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYN1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) for gene: SYN1

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: SYN1 was added gene: SYN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 300491 (3)