Joubert syndrome

Gene: B9D2

Red List (low evidence)

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 7 panels

1 review

Penny Clouston (Oxford)

Red List (low evidence)

On current diagnostic panel; no positives to date. Some evidence from literature; mainly associated with Meckel-Gruber syndrome.
15 Mar 2016, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
OMIM
611951
Clinvar variants
Variants in B9D2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

B9D2 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

B9D2 was added to Joubert syndromepanel. Sources: Expert Review