Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: EXOSC8

Red List (low evidence)

EXOSC8 (exosome component 8)
EnsemblGeneIds (GRCh38): ENSG00000120699
EnsemblGeneIds (GRCh37): ENSG00000120699
OMIM: 606019, Gene2Phenotype
EXOSC8 is in 6 panels

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia,type 1C, 616081
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
None
Panels with this gene

History Filter Activity

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: EXOSC8 was added gene: EXOSC8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: EXOSC8 was set to Unknown Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia,type 1C, 616081