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| Fetal anomalies v0.1106 | B9D1 | Zornitza Stark Marked gene: B9D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1106 | B9D1 | Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1106 | B9D1 | Zornitza Stark Publications for gene: B9D1 were set to 32622957; 24886560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1105 | B9D1 | Zornitza Stark Classified gene: B9D1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1105 | B9D1 | Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1104 | B9D1 | Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1104 | B9D1 | Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1104 | B9D1 | Zornitza Stark edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555, 34338422, 21763481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1104 | B9D1 |
Zornitza Stark edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort) PMID: 24886560 - 2 Joubert syndrome cases PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN |
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| Fetal anomalies v0.0 | B9D1 |
Zornitza Stark gene: B9D1 was added gene: B9D1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 32622957; 24886560 Phenotypes for gene: B9D1 were set to Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927 |
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