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
RS1554523565 Health Risk Conflicting classifications of pathogenicity —
RS1554610128 Health Risk Conflicting classifications of pathogenicity —
RS1554687431 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS1562279050 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS1562842409 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Autosomal recessive ataxia
RS1563330296 Health Risk Conflicting classifications of pathogenicity —
RS1563754171 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS1592495200 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS180727534 Health Risk Conflicting classifications of pathogenicity Distal myopathy, Intellectual disability, Autosomal recessive ataxia
RS183683592 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS184006845 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS184264920 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS185088779 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS185350092 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS185829704 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS187410988 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS187885923 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS188146577 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive ataxia, Beauce type
RS190673256 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS190867604 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS199554198 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS199558070 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199595574 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199673397 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199701902 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199708211 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS199761238 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199762799 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS199769508 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS199779021 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200002217 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200135486 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200137670 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS200209279 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS200222988 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200412221 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200424447 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200658991 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS200678102 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS200701182 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200763530 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200800604 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200802315 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS200812806 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS200930593 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201029723 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS201078255 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201078523 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201131946 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS201144728 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
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