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| Fetal anomalies v1.75 | ACVR2B | Catherine Snow Classified gene: ACVR2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.75 | ACVR2B | Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.75 | ACVR2B | Catherine Snow Gene: acvr2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.73 | ACVR2B | Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.73 | ACVR2B |
Rhiannon Mellis 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 Added comment: 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 |
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