Polycystic liver disease interim

Gene: B9D1

Amber List (moderate evidence)

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels

2 reviews

Bill Griffiths (Cambridge University Hospitals)

Red List (low evidence)

Based on mouse evidence
Created: 25 Nov 2018, 9:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ductal plate malformation

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Created: 12 Mar 2019, 11:27 a.m.
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
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
  • 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
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927

14 Jan 2021, Gel status: 2

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

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: b9d1 has been classified as Amber List (Moderate Evidence).

12 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: B9D1 was added gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21763481; 21493627 Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)