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Prepair 500+

Gene: EXOSC8

Green List (high evidence)

EXOSC8 (exosome component 8)
EnsemblGeneIds (GRCh38): ENSG00000120699
EnsemblGeneIds (GRCh37): ENSG00000120699
OMIM: 606019, Gene2Phenotype
EXOSC8 is in 10 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe, early onset, can be fatal in neonates. Reported in 5 families.
Created: 15 Oct 2024, 5:47 a.m. | Last Modified: 15 Oct 2024, 5:47 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C, 616081 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, MIM#616081
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc8 has been classified as Green List (High Evidence).

30 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, 616081 (3) to Pontocerebellar hypoplasia, type 1C, MIM#616081

30 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOSC8 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: EXOSC8 was added gene: EXOSC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)