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Skeletal dysplasia

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. Not listed in SD nosology paper. Trigonocephaly, dymsorphic - overlap with Bohring-Opitz syndrome. Partial or complete obliteration of the metopic suture is characteristic. Only two cases reported on OMIM - one with translocation that disrupts the gene. Amber/red - better on CSS panel? Note added by AW - CD96 no, No confirmation since original paper by Kaname (AJHG 2007); Review on behalf of Tracy Lester/Andrew Wilkie
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

C-syndrome 217750 (opitz trigonocephaly)

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; Initial rating suggestion: Red List (low evidence)
Created: 6 Mar 2019, 11:36 a.m.


  • C-syndrome 217750 (opitz trigonocephaly)
Clinvar variants
Variants in CD96
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes C-syndrome 217750 (opitz trigonocephaly) for gene: CD96

6 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 Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: CD96 was set to