Thoracic dystrophies
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
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
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
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Neural Tube Defects
- Renal ciliopathies
- Ophthalmological ciliopathies
- Ductal plate malformation
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
14 Jan 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)B9D2 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory