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| Fetal anomalies v0.2642 | FAM46A | Zornitza Stark Tag new gene name tag was added to gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2642 | FAM46A | Zornitza Stark Marked gene: FAM46A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2642 | FAM46A | Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2642 | FAM46A | Zornitza Stark Publications for gene: FAM46A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2641 | FAM46A | Zornitza Stark Classified gene: FAM46A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2641 | FAM46A | Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2366 | FAM46A | Belinda Chong edited their review of gene: FAM46A: Changed publications: 29358272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2366 | FAM46A |
Belinda Chong changed review comment from: Comment when marking as ready: HGNC approved name: TENT5A Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life. In 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.; to: Comment when marking as ready: HGNC approved name: TENT5A Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life. In 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing. |
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| Fetal anomalies v0.2366 | FAM46A | Belinda Chong reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FAM46A |
Zornitza Stark gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type 18, MONDO:0044329; Osteogenesis imperfecta, type XVIII, OMIM:617952 |
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