Thoracic dystrophies

Gene: B9D1

Red List (low evidence)

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 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: B9D1 were changed from to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927

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)

B9D1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory