Hydrocephalus
Gene: TNFRSF11AThe 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
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
Hydrocephalus is a reported feature.
Sources: Expert listCreated: 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
Tag Q4_21_rating was removed from gene: TNFRSF11A.
Source Expert Review Green was added to TNFRSF11A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tnfrsf11a has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: TNFRSF11A.
Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, MIM# 612301 to Osteopetrosis, autosomal recessive 7, OMIM:612301
gene: TNFRSF11A was added gene: TNFRSF11A was added to Hydrocephalus. Sources: Expert list Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, MIM# 612301 Review for gene: TNFRSF11A was set to GREEN gene: TNFRSF11A was marked as current diagnostic