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  3. ACVR2B
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Fetal anomalies

Gene: ACVR2B

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Red List (low evidence)

PMID: 9916847 describes (3?) patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 30622330 - an additional 2 families with heterozygous missense and heterotaxy but variants classed as VUS. PMID: 21864452 - Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. Please note p.Arg40His has 4 homozygotes in the population (gnomAD) and >350 heterozygotes, which is out of keeping for a rare disorder.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 4, autosomal

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Catherine Snow (Genomics England)

Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Created: 19 Aug 2020, 3:30 p.m. | Last Modified: 19 Aug 2020, 3:30 p.m.
Panel Version: 1.75
Created: 19 Aug 2020, 3:30 p.m.
Last Modified: 19 Aug 2020, 3:30 p.m.
Panel version: 1.75

Zornitza Stark (Australian Genomics)

Red List (low evidence)

PMID: 9916847 describes (3?) patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 30622330 - an additional 2 families with heterozygous missense and heterotaxy but variants classed as VUS. PMID: 21864452 - Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease.
Please note p.Arg40His has 4 homozygotes in the population (gnomAD) and >350 heterozygotes, which is out of keeping for a rare disorder.
Created: 1 Jul 2020, 10:45 a.m. | Last Modified: 1 Jul 2020, 10:45 a.m.
Panel Version: 1.73

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 4, autosomal 613751

Publications

Created: 1 Jul 2020, 10:45 a.m.
Last Modified: 1 Jul 2020, 10:45 a.m.
Panel version: 1.73

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489

Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes).

This gene is included in our local heterotaxy panel (NETRGL).
Sources: Expert Review, Literature
Created: 1 Jul 2020, 8:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia

Publications

Created: 1 Jul 2020, 8:10 a.m.

Panel version: 1.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Gut malrotation
  • Heterotaxy, visceral, 4, autosomal
  • Dextrocardia
  • Double outlet right ventricle
  • Heterotaxy
  • asplenia
  • right-sided spleen
  • Transposition of the great arteries
  • polysplenia
OMIM
602730
Clinvar variants
Variants in ACVR2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Heterotaxy, visceral, 4, autosomal for gene: ACVR2B

9 Mar 2026, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: acvr2b has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: ACVR2B was added gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489 Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia Review for gene: ACVR2B was set to GREEN