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Intellectual disability

Gene: EXOSC8

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Three unrelated cases, but two share the same founder mutation - Rating Amber until further cases are reported (added to watchlist).
Created: 28 Jul 2020, 10:44 a.m. | Last Modified: 28 Jul 2020, 10:44 a.m.
Panel Version: 3.205
Not associated with any phenotype in G2P.

PMID: 24989451 (2014) - 22 infants, belonging to two Roma and one Palestinian families, with a severe complex neuological disorder characterised by severe muscle weakness, spasticity, psychomotor retardation and vision and hearing impairment. A homozygous missense variant (p.Ser272Thr) segregated with disease in the two Roma families from the same region. The change was found at a frequency of 3% in the general Roma population, consistent with a founder effect. In the Palestinian family, a second homozyous missense variant (p.Ala2Val) was determined as the disease-causing change. Supporting functional data, as well as zebrafish model. Both variants affect a highly conserved residue and result in significantly decreased EXOSC8 protein in patient cells.
Created: 28 Jul 2020, 10:39 a.m. | Last Modified: 28 Jul 2020, 10:39 a.m.
Panel Version: 3.204

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 1C, 616081

Publications

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
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, MIM#616081
Tags
watchlist founder-effect
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: exosc8 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: EXOSC8. Tag founder-effect tag was added to gene: EXOSC8.

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