1. Panels
  2. Fetal anomalies
  3. B9D1
Genes in panel
Prev Next

Fetal anomalies

Gene: B9D1

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

6 reviews

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Green on ID panel; G2P strong phenotype association. Several publications PMID 40933483;40565534.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 27, OMIM:617120

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Not green on any other panels. Review 2020: In total, there are 3 unrelated cases in literature with Joubert syndrome (milder, purely neurological phenotype in all 3) and variants in B9D1 only (PMID:3262295; 24886560) . Also a further two cases with Meckel/Joubert where B9D1 variants co-exist with a single pathogenic variant in another ciliopathy gene - ?digenic/triallelic inheritance has been suggested (PMID:21493627; 25920555). And a B9D1 mouse model with a ciliopathy phenotype similar to MKS (PMID:21763481). NB: Currently Amber on FA panel (because of original probable rating on DDG2P) and Red on ciliopathies panels 2016: There are four cases reported with either Joubert syndrome or Meckel syndrome, with variants in this gene. However two cases mention variants in other genes, and therefore multiple genes may contribute. Decided insufficient evidence at that time so Red. Only one additional case published since then, which is a milder JS phenotype with compound het B9D1 variants. Since the reported phenotype in patients without a variant in a second ciliopathy gene is mild, still not sure there is sufficient evidence of a fetally-relevant phenotype for B9D1. One new paper since this review PMID: 32622957 both adult patients with mild phenotype. No change keep amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 27, MONDO:0014927; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
There is currently not enough evidence to promote B9D1 to Green on this panel. Maintaining Amber rating, in line with the recent expert review by Rhiannon Mellis (GOSH).
Created: 14 Jan 2021, 4:49 p.m. | Last Modified: 14 Jan 2021, 4:49 p.m.
Panel Version: 1.139
Created: 14 Jan 2021, 4:49 p.m.
Last Modified: 14 Jan 2021, 4:49 p.m.
Panel version: 6.150

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

In total, there are 3 unrelated cases in literature with Joubert syndrome (milder, purely neurological phenotype in all 3) and variants in B9D1 only (PMID:3262295; 24886560) . Also a further two cases with Meckel/Joubert where B9D1 variants co-exist with a single pathogenic variant in another ciliopathy gene - ?digenic/triallelic inheritance has been suggested (PMID: 21493627; 25920555). And a B9D1 mouse model with a ciliopathy phenotype similar to MKS. (PMID: 21763481)

NB: Currently Amber on FA panel (because of original probable rating on DDG2P) and Red on ciliopathies panels – 2016: “There are four cases reported with either Joubert syndrome or Meckel syndrome, with variants in this gene. However two cases mention variants in other genes, and therefore multiple genes may contribute.” Decided insufficient evidence at that time so Red. Only one additional case published since then, which is a milder JS phenotype with compound het B9D1 variants.

Since the reported phenotype in patients without a variant in a second ciliopathy gene is mild, still not sure there is sufficient evidence of a fetally-relevant phenotype for B9D1.
Created: 9 Sep 2020, 3:40 p.m. | Last Modified: 9 Sep 2020, 3:40 p.m.
Panel Version: 1.95

Publications

Created: 9 Sep 2020, 3:40 p.m.
Last Modified: 9 Sep 2020, 3:40 p.m.
Panel version: 1.95

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for MECKEL SYNDROME 9
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, MONDO:0014927
  • Joubert syndrome 27, OMIM:617120
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Joubert syndrome 27, OMIM:617120 for gene: B9D1

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to B9D1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: B9D1 were set to

14 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: B9D1 was added gene: B9D1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9