Cerebellar hypoplasia

Gene: EXOSC3

Green List (high evidence)

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 15 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Pontocerebellar Hypoplasia type 1B
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia, type 1B, 614678
OMIM
606489
Clinvar variants
Variants in EXOSC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene EXOSC3 were set to Pontocerebellar Hypoplasia type 1B;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia, type 1B, 614678

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EXOSC3 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EXOSC3 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EXOSC3 was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

EXOSC3 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

EXOSC3 was created by helen.savage