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  3. OSBPL9
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Fetal anomalies

Gene: OSBPL9

Red List (low evidence)
OSBPL9 (oxysterol binding protein like 9)
EnsemblGeneIds (GRCh38): ENSG00000117859
EnsemblGeneIds (GRCh37): ENSG00000117859
OMIM: 606737, Gene2Phenotype
OSBPL9 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. 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 & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Not reviewed on panel app - no disease linked on omim. PMID: 40182349 homozygous nonsense variant fetus 21+2 cerebral ventriculomegaly, cerebellar hypoplasia, and arthrogryposis multiplex, 3rd degree consanguinity. No functional or animal model data. Red / amber
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex
OMIM
606737
Clinvar variants
Variants in OSBPL9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: OSBPL9 was added gene: OSBPL9 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: OSBPL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSBPL9 were set to 40182349 Phenotypes for gene: OSBPL9 were set to Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex