| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1187 | CD96 | Zornitza Stark Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1187 | CD96 | Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1187 | CD96 | Zornitza Stark Phenotypes for gene: CD96 were changed from C SYNDROME to C syndrome, MIM#211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1186 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1185 | CD96 | Zornitza Stark Classified gene: CD96 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1185 | CD96 | Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1184 | CD96 | Zornitza Stark edited their review of gene: CD96: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1184 | CD96 | Zornitza Stark Mode of inheritance for gene: CD96 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1183 | CD96 |
Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.; to: The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available. |
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| Fetal anomalies v0.1183 | CD96 | Zornitza Stark edited their review of gene: CD96: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1183 | CD96 | Zornitza Stark edited their review of gene: CD96: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CD96 |
Zornitza Stark gene: CD96 was added gene: CD96 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CD96 were set to C SYNDROME |
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