Laterality disorders and isomerism

Gene: ACVR2B

Red List (low evidence)

Limited evidence in literature:

Variants reported on OMIM:

PMID 9916847 - c.119G>A in 397 alleles in gnomAD, prevalence not consistent with AD disease

Other variant in paper c.1480G>A would class as VUS.

Created: 25 Nov 2019, 11:36 p.m. | Last Modified: 25 Nov 2019, 11:36 p.m.

Panel Version: 0.51

Phenotypes
OMIM 613751 Heterotaxy, visceral, 4, autosomal

Publications

• 9916847

Green List (high evidence)

Comment on list classification: Downgraded from Green to Red after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.

Created: 27 Nov 2019, 12:30 p.m. | Last Modified: 27 Nov 2019, 12:34 p.m.

Panel Version: 0.131

From review Panel Name: Familial non syndromic congenital heart disease. Panel version: 1.8 4 Jul 2017, 7:24. Review made by: Helen Brittain (Genomics England Curator). Evidence:Green List (high evidence)
Comment: Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847. Mode of Inheritance : MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes : Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal

Created: 16 Jan 2019, 1:08 p.m.

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 initial 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: 5 Dec 2018, 12:52 p.m.

Publications

• 9916847