Ductal plate malformation
Gene: B9D2EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
- Tags
- OMIM
- 611951
- Clinvar variants
- Variants in B9D2
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Familial Neural Tube Defects
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Ductal plate malformation
- Neurological ciliopathies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: B9D2.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B9D2 were changed from Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175) to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to B9D2. Rating Changed from Green List (high evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: B9D2 was added gene: B9D2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D2 were set to Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175)