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Fetal anomalies

Gene: EXOSC9

Amber List (moderate evidence)
EXOSC9 (exosome component 9)
EnsemblGeneIds (GRCh38): ENSG00000123737
EnsemblGeneIds (GRCh37): ENSG00000123737
OMIM: 606180, Gene2Phenotype
EXOSC9 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Cautiously green on Hereditary ataxia with onset in adulthood panel. PMID:30690203 - 1 patient Brain MRI at age 13 months had revealed cerebellar atrophy in both hemispheres and cerebellar vermis atrophy (Fig. 2a); previous MRI scan performed at 8 months of age was unremarkable. PMID:29727687 - Patient 1: Pregnancy was notable for reduced fetal movements. Brain MRI performed at the age of 7 months revealed mild cerebellar atrophy with a normal-appearing pons and no significant abnormalities of the cerebral white matter or the basal ganglia. Patient 2: During pregnancy, reduced fetal movements, growth retardation, and oligohydramnios were noted. He was born at term with several congenital fractures, including fractures of the bilateral femurs and one fracture of the humerus. Brain MRI performed at 1 week of age showed cerebellar atrophy, generalized cerebral atrophy, and possibly delayed myelination. Patient 3: nothing fetally relevant, no MRI; patient 4: uncomplicated pregnancy, Brain MRI at the age of 6 months showed cerebellar atrophy but a normal-appearing pons. Progressive condition; 1 case suggests prenatal onset of brain anomalies. Amber - pending green reviews on other relevant panelapp panels.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1D, OMIM:618065

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1D, OMIM:618065
OMIM
606180
Clinvar variants
Variants in EXOSC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EXOSC9 was added gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687 Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065