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Intellectual disability

Gene: EXOSC8

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Complex neurological phenotype includes ID.
Sources: Expert list
Created: 2 Feb 2020, 5:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C, MIM#616081

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

2 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EXOSC8 was added gene: EXOSC8 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 29656927 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, MIM#616081 Review for gene: EXOSC8 was set to GREEN gene: EXOSC8 was marked as current diagnostic