Primary ciliary disorders
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
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:32 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
- OMIM
- 611951
- Clinvar variants
- Variants in B9D2
- Penetrance
- Complete
- Panels with this gene
-
- Neurological ciliopathies
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Familial Neural Tube Defects
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Ophthalmological ciliopathies
- Ductal plate malformation
- Limb disorders
- Intellectual disability
History Filter Activity
14 Jan 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B9D2 were changed from ciliopathies to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)B9D2 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory