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Fetal anomalies

Gene: B9D2

Green List (high evidence)
B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants reported in at least four unrelated cases (2 with Joubert syndrome, PMID: 26092869; and 2 with MKS, PMIDs: 21763481 and 31411728)

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as sufficient number of unrelated cases with fetally-relevant phenotype due to variants in the B9D2 gene.
Created: 14 Jan 2021, 4:03 p.m. | Last Modified: 14 Jan 2021, 4:03 p.m.
Panel Version: 1.137
Created: 14 Jan 2021, 4:03 p.m.
Last Modified: 14 Jan 2021, 4:03 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481)
2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869)

NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH.
Sources: Literature, NHS GMS
Created: 9 Sep 2020, 3:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; Meckel syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Sep 2020, 3:42 p.m.

Panel version: 1.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
OMIM
611951
Clinvar variants
Variants in B9D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: B9D2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to B9D2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: B9D2.

14 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609

14 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: B9D2 were set to PMID: 21763481; 26092869

14 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: b9d2 has been classified as Amber List (Moderate Evidence).

9 Sep 2020, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to PMID: 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic