Prepair 1000+

Gene: SYN1

Green List (high evidence)

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

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

• 14985377
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