Laterality disorders and isomerismGene: ACVR2B
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
OMIM 613751 Heterotaxy, visceral, 4, autosomal
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.
Gene: acvr2b has been classified as Red List (Low Evidence).
Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Phenotypes for gene: ACVR2B were changed from to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal
Publications for gene: ACVR2B were set to
Mode of inheritance for gene: ACVR2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to ACVR2B. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ACVR2B was added gene: ACVR2B was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACVR2B was set to