Skeletal dysplasia
Gene: B9D2

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. Only one variants reported
Created: 27 Jul 2016, 1:48 p.m.

Created: 27 Jul 2016, 1:48 p.m.

Panel version: 0.755

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 10 614175

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

Created: 17 Jun 2016, 8:01 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

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

Complete

Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

9 Aug 2016, Gel status: 1