Hereditary ataxia
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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 2 Feb 2016, 10:05 a.m.

Created: 2 Feb 2016, 10:05 a.m.

Panel version: 0.3

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence in lit, positives in our cohort
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
Autosomal recessive ataxia, Beauce type, MONDO:0012549

OMIM

608441

Clinvar variants

Variants in SYNE1

Penetrance

Complete

Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3