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  3. EXOSC8
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Hereditary Neuropathy - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Panel is both paediatric and adult, condition has an SMA component in addition to the PCH.
Created: 27 Sep 2020, 11:33 p.m. | Last Modified: 27 Sep 2020, 11:33 p.m.
Panel Version: 0.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C, MIM# 616081

Publications

Created: 27 Sep 2020, 11:33 p.m.
Last Modified: 27 Sep 2020, 11:33 p.m.
Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dHMN/dSMA
  • Pontocerebellar hypoplasia, type 1c, MIM# 616081
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOSC8 were changed from dHMN/dSMA; Pontocerebellar hypoplasia, type 1c to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c, MIM# 616081

27 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOSC8 were set to

27 Sep 2020, 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).

15 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: exosc8 has been classified as Red List (Low Evidence).

15 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: exosc8 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EXOSC8 was added gene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c