Ciliopathies
Gene: B9D2

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families with JBS and one with Meckel syndrome phenotype reported.
Created: 15 Feb 2021, 7:37 a.m. | Last Modified: 15 Feb 2021, 7:37 a.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175

Publications

Created: 15 Feb 2021, 7:37 a.m.
Last Modified: 15 Feb 2021, 7:37 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Joubert syndrome 34, MIM# 614175
Meckel syndrome 10, MIM# 614175

OMIM

611951

Clinvar variants

Variants in B9D2

Penetrance

None

Publications

Panels with this gene