This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: B9D1
B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Meckel syndrome 9, OMIM #614209
- Joubert syndrome 27, OMIM #617120
- OMIM
- 614144
- Clinvar variants
- Variants in B9D1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Limb disorders
- Skeletal dysplasia
- Neurological ciliopathies
- Familial Neural Tube Defects
- Intellectual disability
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: B9D1 was added gene: B9D1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120