Hereditary Neuropathy - complex

Gene: EXOSC3

Amber List (moderate evidence)

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 25144110
Loss of function or reduced function of the EXOSC3 is the established mechanism of disease.
Nonsense variants in the EXOSC3 gene are more severe than missense variants.

PMID: 22544365
at least 9 families identified with either homozygous or compound heterozygous mutations in EXOSC3.
Only one reported with neurological/neuropathy findings.
Created: 6 Jul 2023, 11:04 p.m. | Last Modified: 6 Jul 2023, 11:04 p.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, MIM#614678

Publications

History Filter Activity

24 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc3 has been classified as Amber List (Moderate Evidence).

24 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc3 has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA