Thoracic dystrophies

Gene: ACVR2B

Red List (low evidence)

ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 10 panels

3 reviews

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

Red List (low evidence)


Hannah Mitchison (UCL and GOSH)

Red List (low evidence)


Helen Savage (Congenica Ltd)

Red List (low evidence)

History Filter Activity

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)

ACVR2B was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory