Polydactyly
Gene: CD96

CD96 (CD96 molecule)
EnsemblGeneIds (GRCh38): ENSG00000153283
EnsemblGeneIds (GRCh37): ENSG00000153283
OMIM: 606037, Gene2Phenotype
CD96 is in 8 panels

2 reviews

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 21 Jul 2020, 4:24 a.m.
Last Modified: 21 Jul 2020, 4:24 a.m.
Panel version: 0.36

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.
Created: 26 Nov 2019, 9:28 a.m. | Last Modified: 26 Nov 2019, 9:28 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
C syndrome, MIM#211750

Publications

17847009

Created: 26 Nov 2019, 9:28 a.m.
Last Modified: 26 Nov 2019, 9:28 a.m.
Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ panel version 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genetic Health Queensland
Victorian Clinical Genetics Services

Phenotypes

C syndrome, MIM#211750

OMIM

606037

Clinvar variants

Variants in CD96

Penetrance

None

Publications

17847009

Panels with this gene