Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CD96EnsemblGeneIds (GRCh38): ENSG00000153283
EnsemblGeneIds (GRCh37): ENSG00000153283
OMIM: 606037, Gene2Phenotype
CD96 is in 6 panels
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Similar phenotype to ASXL1. red - no CSS reported so far? AR ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
C syndrome
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CD96; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- C syndrome
- OMIM
- 606037
- Clinvar variants
- Variants in CD96
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes C syndrome for gene: CD96
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: CD96 was added gene: CD96 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CD96 was set to