Ataxia and cerebellar anomalies - narrow panel
Gene: ATXN8

ATXN8 (ataxin 8)
OMIM: 613289, Gene2Phenotype
ATXN8 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Ensembl identifiers not available for GRCh37(release 82) or GRCh38 (release 90)
Created: 8 Jul 2020, 11:11 a.m. | Last Modified: 8 Jul 2020, 11:11 a.m.

Panel Version: 2.6

Created: 8 Jul 2020, 11:11 a.m.
Last Modified: 8 Jul 2020, 11:11 a.m.
Panel version: 2.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

Spinocerebellar ataxia 8

Tags

ensembl_ids_known_missing

OMIM

613289

Clinvar variants

Variants in ATXN8

Penetrance

None

Publications

10192387

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: ATXN8.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATXN8 was added gene: ATXN8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments

Ataxia and cerebellar anomalies - narrow panel Gene: ATXN8