SYNE1 Chromosome 6

Spectrin repeat containing nuclear envelope protein 1
882 variants 882 Health Risk

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What This Gene Does
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Spectrin repeat containing nuclear envelope family|KASH domain containing"
Locus Type
gene with protein product
Location
6q25.2
Ensembl
ENSG00000131018
Associated Conditions (41)
Autosomal recessive ataxia
Beauce type
Emery-Dreifuss muscular dystrophy 4
autosomal dominant
Abnormal brain morphology
Inborn genetic diseases
SYNE1-related disorder
Hereditary ataxia
Arthrogryposis syndrome
Intellectual disability
Arthrogryposis multiplex congenita 3
myogenic type
Thyroid cancer
nonmedullary
1
Limb-girdle muscular dystrophy
Spastic ataxia
Clear cell carcinoma of kidney
Hepatocellular carcinoma
Familial cancer of breast
+21 more conditions
Key Variants
RS1014746277
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS1020832262
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS1057521423
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS1057522688
Conflicting classifications of pathogenicity
Health Risk
RS1057523855
Conflicting classifications of pathogenicity
Health Risk
RS1060499769
Conflicting classifications of pathogenicity
Abnormal brain morphology, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Health Risk
RS111367233
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS111511993
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS112744561
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS113163375
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS113962905
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS114858512
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
All Variants (882)
RSID Category Clinical Significance Conditions
RS201313856 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201344762 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201392317 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201497427 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201537074 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201548223 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201692248 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201715967 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201799566 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201873107 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201898019 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201908045 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201913828 Health Risk Conflicting classifications of pathogenicity —
RS202017153 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS202030113 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS202105931 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS202171698 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS202173395 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS202207154 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS202207690 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS2061105872 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS2081426061 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS2096229863 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS2096322019 Health Risk Conflicting classifications of pathogenicity —
RS2096781049 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS2098156037 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS2296253 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS267600861 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS267600862 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS34963077 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS35128811 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS35379711 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS35686213 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS367603152 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS367617527 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS367744351 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS367790193 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS367864272 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS367936675 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368012172 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS368201364 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368364250 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS368542446 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368595280 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368709678 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368828206 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368846118 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS368858186 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS369073682 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS369192821 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
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