SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SYNE1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.417 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Distal arthrogryposis
Red SYNE1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Amber SYNE1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Green SYNE1 in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, myogenic type, MIM# 618484 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998 Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Green SYNE1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Red SYNE1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092
Green SYNE1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SYNE1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 8 Cerebellar Ataxia Autosomal recessive spinocerebellar ataxia type 8
Green SYNE1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Green SYNE1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Green SYNE1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778