Thoracic dystrophies

Gene: B9D2

Red List (low evidence)

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 15 panels

2 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Red List (low evidence)

Hannah Mitchison (UCL and GOSH)

Red List (low evidence)

History Filter Activity

14 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

31 May 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

B9D2 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory