SYN1

synapsin I
OMIM: 313440, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SYN1 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115
Green SYN1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115
Green SYN1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339
Green SYN1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Red SYN1 in Fetal anomalies Version 1.313	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115
Green SYN1 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	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
Green SYN1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)