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  3. TNFSF11
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Fetal anomalies

Gene: TNFSF11

Red List (low evidence)
TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

Red List (low evidence)

Green in osteopetrosis and skeletal dysplasia. Not on craniosynostosis. Turan et al: osteopetrosis review. Can't find evidence of antenatal presentation. But other osteopetrosis genes on R21 e.g. CLCN7. Short stature is a constant finding in Dysosteosclerosis, but prenatal growth is not affected. Clinical features of DSS are recurrent fractures (start in adolescence), short stature, failure of tooth eruption, and, sometimes optic atrophy and other cranial nerve palsies, developmental delay, and skin changes. Craniosynostosis and hydrocephalus reported with this gene, may be detectable prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 2, MIM#259710

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 2, OMIM:259710
OMIM
602642
Clinvar variants
Variants in TNFSF11
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TNFSF11 was added gene: TNFSF11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, OMIM:259710