SYNE1 Chromosome 6
Spectrin repeat containing nuclear envelope protein 1
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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 |
|---|---|---|---|
| RS1057520134 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS1164612098 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS1220584620 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1246610728 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1385280819 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS1412791793 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS1417491327 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS1554558620 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS1554829141 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Autosomal recessive ataxia |
| RS1563075936 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS1563391747 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS2153836962 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS2154194664 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS2498429287 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS369163343 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS746177326 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis multiplex congenita 3, myogenic type, Cleft lip/palate |
| RS747322064 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS749419811 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS752224921 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS759460806 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS760678661 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3 |
| RS763325410 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Abnormal central motor function |
| RS768958602 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Autosomal recessive ataxia |
| RS769419654 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS771760718 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS778686915 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |
| RS780991031 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia, Autosomal recessive ataxia, Beauce type |
| RS794727577 | Health Risk | Pathogenic/Likely pathogenic | See cases, Autosomal recessive ataxia, Beauce type |
| RS797046024 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Autosomal recessive ataxia |
| RS886042954 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS946657984 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia |
| RS960281682 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4 |