SYT2

synaptotagmin 2
OMIM: 600104, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red SYT2 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040
Red SYT2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040
Green SYT2 in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Red SYT2 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	Not set	Sources Expert Review Red Expert
Green SYT2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYT2-related congenital onset presynaptic myasthenic syndrome
Green SYT2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH NHS GMS London North GLH Expert list Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 Tags missense watchlist
Amber SYT2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040 Tags Q3_23_promote_green