This Panel is marked as Internal
Joubert syndrome
Gene: B9D2
B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels
1 review
Penny Clouston (Oxford)
On current diagnostic panel; no positives to date. Some evidence from literature; mainly associated with Meckel-Gruber syndrome.Created: 15 Mar 2016, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Meckel syndrome
- Joubert syndrome
- OMIM
- 611951
- Clinvar variants
- Variants in B9D2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Neurological ciliopathies
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Limb disorders
- Intellectual disability
- Familial Neural Tube Defects
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Ophthalmological ciliopathies
- Ductal plate malformation
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)B9D2 was created by PennyC
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)B9D2 was added to Joubert syndromepanel. Sources: Expert Review