1. Panels
  2. Muscular dystrophy and myopathy_Paediatric
  3. SYNE1
STRs in panel
Prev Next
Regions in panel
Prev Next

Muscular dystrophy and myopathy_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital onset described in at least two families with bi-allelic variants.
Created: 24 Jun 2020, 12:29 a.m. | Last Modified: 24 Jun 2020, 12:33 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

Publications

Created: 24 Jun 2020, 12:29 a.m.
Last Modified: 24 Jun 2020, 12:33 a.m.
Panel version: 0.27

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syne1 has been classified as Green List (High Evidence).

24 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYNE1 were changed from to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

24 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYNE1 were set to

24 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYNE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNE1 was added gene: SYNE1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SYNE1 was set to Unknown