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  3. EXOSC1
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Fetal anomalies

Gene: EXOSC1

Amber List (moderate evidence)
EXOSC1 (exosome component 1)
EnsemblGeneIds (GRCh38): ENSG00000171311
EnsemblGeneIds (GRCh37): ENSG00000171311
OMIM: 606493, Gene2Phenotype
EXOSC1 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
This review was added on behalf of Dr Tazeen Ashraf (GOSH): This gene is less published with no prenatal phenotype reported yet. However in the cases reported there is a congenital phenotype (and cases which are reported did not have any 3rd trimester sonography in pregnancy). One could assume that features such as growth restriction, microcephaly and abnormal facial profile may be detectable antenatally. I suspect the prenatal phenotype is present but yet to be reported. 2 siblings in paper 33463720 and single case report in 37024942. Only yeast model. Missense variants. As such have listed this gene as Amber but could be green? - needs further review in future for R21. However as the postnatal phenotype has been reported - would recommend this gene is added to R27 and R54.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1F, OMIM:619304

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1F, OMIM:619304
OMIM
606493
Clinvar variants
Variants in EXOSC1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia, type 1F, OMIM:619304 for gene: EXOSC1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: EXOSC1 was added gene: EXOSC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal