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Limb disorders

Gene: CD96

Red List (low evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving rating at red as only 1 reported case of a patient with limb abnormalities and a putative pathogenic variant in CD96
Created: 17 Oct 2018, 9:33 p.m.
CD96 is associated with C syndrome in OMIM and Gene2Phenotype (probable).

Kaname et al. (2007)(PMID:17847009) describe 2 unrelated patients with C syndrome. In the first the CD96 gene was interrupted in a de novo balanced translocation. The translocation breakpoint was located in exon 5 of CD96 and probably led to premature termination or loss of expression of CD96 protein. Semiquantitative RT-PCR analysis showed that CD96 expression in B cells of the patient was reduced to 45.8% of the normal level. However, in the clinical description of this patient (in PMID: 16835930) limb abnormalities are not described. In a second patient a missense mutation, T280M, in exon 6 of the CD96 gene was found (patient originally reported by Osaki et al. (2006)(PMID: 16528754). This patient had flexion deformity of the upper limb at the elbow, ulnarly deviated hands at the wrist joints, deep palmar creases, and talipes equinovalgus were evident. The fingers were short and tapering without poly‐ or syndactyly.

More recently Urreizti et al (2016)(PMID:26768331) screened CD96 and ASXL1 in a group of 11 individuals, 10 of them were diagnosed with OTCS (Opitz C syndrome) , and one had a BOS (Bohring-Opitz syndrome) phenotype. Only one putative pathogenic mutation was discovered in ASXL1 in the patient with BOS.

In summary, only 1 reported cases of a patient with limb abnormalities and a putative pathogenic variant in CD96 has been reported.
Created: 17 Oct 2018, 4:12 p.m.

Details

Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • C syndrome 211750
OMIM
606037
Clinvar variants
Variants in CD96
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: CD96 is associated with C synd

17 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Oct 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CD96 were changed from Polydactyly to Polydactyly; C syndrome 211750

17 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CD96 were set to

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD96 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CD96 was created by Ellen McDonagh