SYNE1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SYNE1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.72 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743 Autosomal recessive ataxia, Beauce type, MONDO:0012549
Green SYNE1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743 Autosomal recessive ataxia, Beauce type, MONDO:0012549
Red SYNE1 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list
Green SYNE1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998 Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Green SYNE1 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Green SYNE1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.39 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Red SYNE1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.19 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar Ataxia Spinocerebellar ataxia, autosomal recessive 8
Green SYNE1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.158 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Green SYNE1 in DDG2P Version 6.427 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743
Red SYNE1 in Intellectual disability Level 2: Developmental disorders Version 9.325 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Spinocerebellar ataxia, autosomal recessive 8, 610743 intellectual disability
Green SYNE1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743 Autosomal recessive ataxia, Beauce type, MONDO:0012549
Red SYNE1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH