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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. CD96
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GMS Musculoskeletal specialist test group 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

Eleanor Williams (Genomics England Curator)

Reviews were correct. In upload this gene and CDC45 had been switched. Only affects internal panel
Created: 3 May 2019, 8:56 a.m.
Comment on list classification: Was rated incorrectly, should be red
Created: 3 May 2019, 8:54 a.m.
Created: 3 May 2019, 8:54 a.m.

Panel version: 0.19

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, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
C-syndrome 217750 (opitz trigonocephaly)

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • C-syndrome 217750 (opitz trigonocephaly)
OMIM
606037
Clinvar variants
Variants in CD96
Penetrance
None
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CD96 were changed from Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) to C-syndrome 217750 (opitz trigonocephaly)

3 May 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CD96 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 May 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cd96 has been classified as Red List (Low Evidence).

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CD96 was added gene: CD96 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD96 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)