SYT14

synaptotagmin 14
OMIM: 610949, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red SYT14 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229
Red SYT14 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229
Red SYT14 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229
Red SYT14 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes psychomotor retardation Tags structural-variant
Red SYT14 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Autosomal recessive spinocerebellar ataxia 11, 614229