Hydrocephalus
Gene: TNFRSF11A

TNFRSF11A (TNF receptor superfamily member 11a)
EnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.

Panel Version: 2.127

Created: 14 Mar 2022, 1:52 p.m.
Last Modified: 14 Mar 2022, 1:52 p.m.
Panel version: 2.127

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Based on the expert review there is enough evidnece for this gene to be Green on this panel.
Created: 20 Oct 2021, 12:29 p.m. | Last Modified: 20 Oct 2021, 12:29 p.m.

Panel Version: 2.123

Created: 20 Oct 2021, 12:29 p.m.
Last Modified: 20 Oct 2021, 12:29 p.m.
Panel version: 2.123

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hydrocephalus is a reported feature.
Sources: Expert list
Created: 8 Aug 2020, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 7, MIM# 612301

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Aug 2020, 2:55 a.m.

Panel version: 2.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Osteopetrosis, autosomal recessive 7, OMIM:612301

OMIM

603499

Clinvar variants

Variants in TNFRSF11A

Penetrance

None

Panels with this gene