Intellectual disability update Jan 2018
Gene: CDH11EnsemblGeneIds (GRCh38): ENSG00000140937
EnsemblGeneIds (GRCh37): ENSG00000140937
OMIM: 600023, Gene2Phenotype
CDH11 is in 3 panels
1 review
Sarah Leigh (Genomics England Curator)
Not associated with phenotype in OMIM or G2P. However, three biallelic truncating variants reported, each in unrelated cases of Elsahy-Waters syndrome, which is relevant for the ID panel.Created: 2 Jan 2018, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Elsahy-Waters syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Elsahy-Waters syndrome
- OMIM
- 600023
- Clinvar variants
- Variants in CDH11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)CDH11 was added to Intellectual disability update Jan 2018 panel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)CDH11 was created by Sarah Leigh