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| Paediatric disorders - additional genes v7.47 | ACVR2B | Ida Ertmanska Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 to Heterotaxy, visceral, 4, autosomal, OMIM:613751; heterotaxy, visceral, 4, autosomal, MONDO:0013403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.37 | ACVR2B | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.37 | ACVR2B | Ida Ertmanska commented on gene: ACVR2B: Tofersen is a genetic therapy developed for a rare inherited form of motor neurone disease (MND) caused by mutations in the SOD1 gene. The MHRA approved Tofersen in July 2025 for adults with SOD1‑related MND; however, it has not been approved by NICE for routine NHS use, and the NICE appraisal process is ongoing. Hence, 'treatable' tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.37 | ACVR2B |
Ida Ertmanska changed review comment from: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). ACVR2B:c.1480G>A p.Val494Ile is rare in gnomAD v4 (14 alleles reported, no homozygotes, MAF = 0.00003378). ACVR2B:c.119G>A, p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare dominant disorder. PMID: 21864452 Ma et al., 2011 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: c.1147C>T, p.Arg383Cys missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. The p.Arg309Cys variant is rare in gnomAD v4, with 30 alleles reported and no homozygotes (MAF = 0.00005490); VUS in ClinVar. Functional evidence: PMID: 9242489 Oh & Li 1997 - knockout acvr2b -/- mice die after birth with complicated cardiac defects including randomized heart position, malposition of the great arteries, and ventricular and atrial septal defects; the heart anomalies are associated with right pulmonary isomerism and splenic abnormalities. PMID: 21864452 Ma et al., 2011 - Activin receptor IIB (Acvr2b) is expressed asymmetrically along left-right axis in mouse and chick The gene is associated with AD Heterotaxy, visceral, 4, autosomal, MIM:613751 in OMIM. ACVR2B has not been curated in ClinGen and it is limited in Gene2Phenotype.; to: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). ACVR2B:c.1480G>A p.Val494Ile is rare in gnomAD v4 (14 alleles reported, no homozygotes, MAF = 0.00003378). ACVR2B:c.119G>A, p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare dominant disorder. PMID: 21864452 Ma et al., 2011 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: c.1147C>T, p.Arg383Cys missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. The p.Arg309Cys variant is rare in gnomAD v4, with 30 alleles reported and no homozygotes (MAF = 0.00005490); VUS in ClinVar. Functional evidence: PMID: 9242489 Oh & Li 1997 - knockout acvr2b -/- mice die after birth with complicated cardiac defects including randomized heart position, malposition of the great arteries, and ventricular and atrial septal defects; the heart anomalies are associated with right pulmonary isomerism and splenic abnormalities. PMID: 17849440 Goto et al., 2007 - The acvr2b+/− mice were revealed to be normal and viable; left–right patterning defects seen in some of the (acvr2b+/−smad2+/−) mice - digenic inheritance? PMID: 21864452 Ma et al., 2011 - Activin receptor IIB (Acvr2b) is expressed asymmetrically along left-right axis in mouse and chick The gene is associated with AD Heterotaxy, visceral, 4, autosomal, MIM:613751 in OMIM. ACVR2B has not been curated in ClinGen and it is limited in Gene2Phenotype. |
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| Paediatric disorders - additional genes v7.37 | ACVR2B |
Ida Ertmanska changed review comment from: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). ACVR2B:c.1480G>A p.Val494Ile is rare in gnomAD v4 (14 alleles reported, no homozygotes, MAF = 0.00003378). ACVR2B:c.119G>A, p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare dominant disorder. PMID: 21864452 Ma et al., 2012 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: c.1147C>T, p.Arg383Cys missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. The p.Arg309Cys variant is rare in gnomAD v4, with 30 alleles reported and no homozygotes (MAF = 0.00005490); VUS in ClinVar. The gene is associated with AD Heterotaxy, visceral, 4, autosomal, MIM:613751 in OMIM. ACVR2B has not been curated in ClinGen and it is limited in Gene2Phenotype.; to: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). ACVR2B:c.1480G>A p.Val494Ile is rare in gnomAD v4 (14 alleles reported, no homozygotes, MAF = 0.00003378). ACVR2B:c.119G>A, p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare dominant disorder. PMID: 21864452 Ma et al., 2011 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: c.1147C>T, p.Arg383Cys missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. The p.Arg309Cys variant is rare in gnomAD v4, with 30 alleles reported and no homozygotes (MAF = 0.00005490); VUS in ClinVar. Functional evidence: PMID: 9242489 Oh & Li 1997 - knockout acvr2b -/- mice die after birth with complicated cardiac defects including randomized heart position, malposition of the great arteries, and ventricular and atrial septal defects; the heart anomalies are associated with right pulmonary isomerism and splenic abnormalities. PMID: 21864452 Ma et al., 2011 - Activin receptor IIB (Acvr2b) is expressed asymmetrically along left-right axis in mouse and chick The gene is associated with AD Heterotaxy, visceral, 4, autosomal, MIM:613751 in OMIM. ACVR2B has not been curated in ClinGen and it is limited in Gene2Phenotype. |
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| Paediatric disorders - additional genes v7.37 | ACVR2B |
Ida Ertmanska changed review comment from: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 21864452 Ma et al., 2012 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. The p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare disorder. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: p.(R383C) missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear.; to: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). ACVR2B:c.1480G>A p.Val494Ile is rare in gnomAD v4 (14 alleles reported, no homozygotes, MAF = 0.00003378). ACVR2B:c.119G>A, p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare dominant disorder. PMID: 21864452 Ma et al., 2012 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: c.1147C>T, p.Arg383Cys missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. The p.Arg309Cys variant is rare in gnomAD v4, with 30 alleles reported and no homozygotes (MAF = 0.00005490); VUS in ClinVar. The gene is associated with AD Heterotaxy, visceral, 4, autosomal, MIM:613751 in OMIM. ACVR2B has not been curated in ClinGen and it is limited in Gene2Phenotype. |
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| Paediatric disorders - additional genes v7.37 | ACVR2B | Ida Ertmanska edited their review of gene: ACVR2B: Changed publications to: 9916847, 21864452, 30622330, 35547246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.37 | ACVR2B |
Ida Ertmanska changed review comment from: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 21864452 Ma et al., 2012 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. The p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare disorder. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: p.(R383C) missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar.; to: PMID: 9916847 Kosaki et al., 1999 Report of 3 patients who are heterozygous for variants p.(R40H), p.V494I (1999 paper). PMID: 21864452 Ma et al., 2012 Two unrelated patients with heterotaxy and a recurring missense (p.R40H). Unaffected mothers are carriers = variant did not segregate with disease. The p.Arg40His mutation has 4 homozygotes in the population (gnomAD) and >350 heterozygotes - too common for a rare disorder. PMID: 30622330 Li et al., 2019 Pedigree with a heterozygous missense variant in ACVR2B and heterotaxy. Family 1: p.(R383C) missense variant in ACVR2B was inherited from an affected parent, clear segregation of the variant with five affected individuals from three generations. The variant is not present in gnomAD v4, and it is classified as LP in ClinVar. PMID: 35547246 Antony et al., 2022 Family SI-47 - proband with Situs inversus totalis had a heterozygous ACVR2B variant c.925C>T, p.Arg309Cys and a homozygous c.350A>G, p.Asp117Gly variant in CCDC39. CCDC39 is associated with recessive Ciliary dyskinesia, primary, 14, OMIM:613807. Effect of each variant is unclear. |
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| Paediatric disorders - additional genes v7.37 | ACVR2B | Ida Ertmanska reviewed gene: ACVR2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916847, 21864452, 30622330; Phenotypes: Heterotaxy, visceral, 4, autosomal, OMIM:613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.26 | ACVR2B | Helen Brittain Classified gene: ACVR2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.26 | ACVR2B | Helen Brittain Added comment: Comment on list classification: Meets criteria for green rating under 100K - awaiting higher level sign off re GMS indication | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.26 | ACVR2B | Helen Brittain Gene: acvr2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.25 | ACVR2B |
Helen Brittain gene: ACVR2B was added gene: ACVR2B was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR2B were set to 9916847 Phenotypes for gene: ACVR2B were set to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Review for gene: ACVR2B was set to GREEN Added comment: Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrial isomerism Sources: Literature |
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