Genes in panel

Hereditary ataxia - adult onset

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 15 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

On Ox and Sheffield panels. SCAR8
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple patients in lit and our own cohort. Note that AD missense variants have apparently been associated with a form of Emery-Dreifuss muscular dystrophy - not convincing and gene very polymorphic for missense variants in our cohort. Consider reporting LoF/Splice predicting variants only (or missense when in trans with LoF variant)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia type 8

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
  • Autosomal recessive ataxia, Beauce type, MONDO:0012549
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
None
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; Autosomal recessive spinocerebellar ataxia type 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to SYNE1.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal recessive spinocerebellar ataxia type 8 for gene: SYNE1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYNE1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SYNE1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: SYNE1 was added gene: SYNE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8