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  2. Ataxia - paediatric
  3. SYNE1
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Ataxia - 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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typical onset is in adulthood, but childhood-onset cases reported. Intra-familial variability.
Sources: Expert list
Created: 16 Apr 2020, 11:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743

Publications

Created: 16 Apr 2020, 11:45 p.m.

Panel version: 0.127

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 list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 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).

16 Apr 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).

16 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNE1 was added gene: SYNE1 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 23325900; 27086870 Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Review for gene: SYNE1 was set to GREEN