Joubert syndrome

Gene: B9D1

Red List (low evidence)

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 11 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.
Created: 15 Mar 2016, 11:17 a.m.

Phenotypes
Meckel-Gruber syndrome; Joubert syndrome

Publications

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

Details

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)

B9D1 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

B9D1 was added to Joubert syndromepanel. Sources: Expert Review