Cerebellar hypoplasia

Gene: EXOSC8

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only one report -mutations found in three families. Not listed on G2P. Not offered as diagnostic test on UKGTN
Created: 3 Nov 2016, 10:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerebellar hypoplasia type 1C 616081

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pontocerebellar hypoplasia,type 1C, 616081
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

11 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EXOSC8 was created by ellenmcdonagh

11 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EXOSC8 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen