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  3. TNFSF11
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BabyScreen+ newborn screening

Gene: TNFSF11

Amber List (moderate evidence)
TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

For review. Other forms of osteopetrosis benefit from bone marrow transplant.
Created: 6 Dec 2022, 9:36 a.m. | Last Modified: 6 Dec 2022, 9:36 a.m.
Panel Version: 0.1183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 2 MIM#259710

Created: 6 Dec 2022, 9:36 a.m.
Last Modified: 6 Dec 2022, 9:36 a.m.
Panel version: 0.1183

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment
Created: 6 Dec 2022, 1:29 a.m. | Last Modified: 6 Dec 2022, 1:57 a.m.
Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 2 MIM#259710

Publications

Created: 6 Dec 2022, 1:29 a.m.
Last Modified: 6 Dec 2022, 1:57 a.m.
Panel version: 0.1154

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category A gene
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
for review skeletal
OMIM
602642
Clinvar variants
Variants in TNFSF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).

6 Dec 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710

6 Dec 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFSF11 were set to

6 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).

6 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TNFSF11. Tag skeletal tag was added to gene: TNFSF11.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFSF11 was added gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2