Ductal plate malformation
Gene: B9D1EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels
2 reviews
Bill Griffiths (Cambridge University Hospitals)
Based on mouse evidenceCreated: 25 Nov 2018, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ductal plate malformation
Publications
- PMID: 21763481
Ivone Leong (Genomics England Curator)
Comment when marking as ready: There is not enough evidence to promote B9D1 to a green gene on this panel.Created: 26 Nov 2018, 1:31 p.m.
Comment on list classification: Demoted from green to amber after taking into consideration the red review by Bill Griffiths (Cambridge University Hospitals) and other sources of evidence. There is not enough evidence from patient data and B9D1 is a red gene on the Rare cilipathy panel.Created: 26 Nov 2018, 1:30 p.m.
Probable gene for Meckel Syndrome on Gene2Phenotype. There is one family with gene mutation with MS and another family with a large deletion in the gene with MS. There is also evidence from animal models.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
- Tags
- OMIM
- 614144
- Clinvar variants
- Variants in B9D1
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to B9D1. Added phenotypes ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) for gene: B9D1 Publications for gene B9D1 were changed from 21493627; 21763481 to 21763481; 21493627
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Probable gene for Meckel Syndr
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: B9D1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: B9D1 were set to
Added New Source
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to B9D1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: B9D1 was added gene: B9D1 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: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)