Ductal plate malformation
Gene: B9D1
Based on mouse evidenceCreated: 25 Nov 2018, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ductal plate malformation
Publications
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
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
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
Ivone Leong: Probable gene for Meckel Syndr
Tag watchlist tag was added to gene: B9D1.
Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Publications for gene: B9D1 were set to
Source Expert Review Green was added to B9D1.
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)