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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. SYNE1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SYNE1

Green List (high evidence)
SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 11 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases
Sources: Expert Review
Created: 24 Feb 2020, 10:01 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998

Publications

Created: 24 Feb 2020, 10:01 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.70

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic loss-of-function well reported in patients with ataxia.
Created: 20 Feb 2020, 11:08 p.m. | Last Modified: 20 Feb 2020, 11:08 p.m.
Panel Version: 0.1415

Phenotypes
Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743)

Publications

Created: 20 Feb 2020, 11:08 p.m.
Last Modified: 20 Feb 2020, 11:08 p.m.
Panel version: Imported from Mendeliome panel version 0.1415

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.
Distal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.
Created: 22 Feb 2020, 7:12 a.m. | Last Modified: 22 Feb 2020, 7:12 a.m.
Panel Version: 0.1418
Single family reported with homozygous variants and autism in multiple individuals, offspring of consanguineous parents.
Created: 23 Nov 2019, 10 a.m. | Last Modified: 23 Nov 2019, 10 a.m.
Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743

Publications

Created: 23 Nov 2019, 10 a.m.
Last Modified: 23 Nov 2019, 10 a.m.
Panel version: Imported from Mendeliome panel version 0.1418

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SYNE1 was added gene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998