DDG2P
Gene: SYNE1

SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 9:12 a.m.

Panel Version: 3.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 9:12 a.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
Created: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating: both DD and IF (for all listed disorders).
Created: 19 Nov 2018, 11:31 a.m.

Created: 19 Nov 2018, 11:31 a.m.

Panel version: 1.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743

OMIM

608441

Clinvar variants

Variants in SYNE1

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SYNE1 were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743

12 Jul 2019, Gel status: 3