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  2. Hydrocephalus_Ventriculomegaly
  3. TNFRSF11A
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Hydrocephalus_Ventriculomegaly

Gene: TNFRSF11A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hydrocephalus is a reported feature.
Created: 8 Aug 2020, 2:53 a.m. | Last Modified: 8 Aug 2020, 2:53 a.m.
Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 7, MIM# 612301

Created: 8 Aug 2020, 2:53 a.m.
Last Modified: 8 Aug 2020, 2:53 a.m.
Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 7, MIM# 612301
OMIM
603499
Clinvar variants
Variants in TNFRSF11A
Penetrance
None
Panels with this gene

History Filter Activity

8 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf11a has been classified as Green List (High Evidence).

8 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7, MIM# 612301

8 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF11A was added gene: TNFRSF11A was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFRSF11A was set to Unknown