SYNE1:Ensemblv115

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SYNE1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Distal arthrogryposis
Red SYNE1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Red
Amber SYNE1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Green SYNE1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Green SYNE1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SYNE1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 8 Cerebellar Ataxia Autosomal recessive spinocerebellar ataxia type 8
Green SYNE1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Green Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998