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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: CD96

Red List (low evidence)

CD96 (CD96 molecule)
EnsemblGeneIds (GRCh38): ENSG00000153283
EnsemblGeneIds (GRCh37): ENSG00000153283
OMIM: 606037, Gene2Phenotype
CD96 is in 6 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Similar phenotype to ASXL1. red - no CSS reported so far? AR ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

C syndrome

Eleanor Williams (Genomics England Curator)

I don't know

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: red
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes C syndrome for gene: CD96

5 Mar 2019, Gel status: 1

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