SYN1

synapsin I
OMIM: 313440, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber SYN1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Green SYN1 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927
Green SYN1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491
Green SYN1 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS