GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: ACVR2B

ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ACVR2B; Suggested intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 26 Nov 2018, 2:25 p.m.

Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

Details

Sources

Expert Review Green
NHS GMS

OMIM

602730

Clinvar variants

Variants in ACVR2B

Penetrance

None

Panels with this gene

History Filter Activity

26 Nov 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACVR2B. Rating Changed from Red List (low evidence) to Green List (high evidence)

26 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance