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  3. EXOSC10
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Fetal anomalies

Gene: EXOSC10

Red List (low evidence)
EXOSC10 (exosome component 10)
EnsemblGeneIds (GRCh38): ENSG00000171824
EnsemblGeneIds (GRCh37): ENSG00000171824
OMIM: 605960, Gene2Phenotype
EXOSC10 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

Not on any UK panels. Amber on Australian microcephaly and ID panels. No definitive disease association based on literature.PMID 41132091: de novo missense variant in a patient with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. De novo 1p36 microdeletions encompassing EXOSC10 and other genes seen in additional patients with similar features. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice.PMID 41609100: homozygous missense variants in a patient with premature ovarian failure.Gene is not predicted to be haploinsufficient. Monoallelic gain-of-function or biallelic loss-of-function mechanisms possible, but more cases needed to establish gene-disease relationship.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly, MONDO:0001149

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Microcephaly, MONDO:0001149
OMIM
605960
Clinvar variants
Variants in EXOSC10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: EXOSC10 was added gene: EXOSC10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXOSC10 were set to 41132091 Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149