Intellectual disability syndromic and non-syndromic
Gene: CDH11

CDH11 (cadherin 11)
EnsemblGeneIds (GRCh38): ENSG00000140937
EnsemblGeneIds (GRCh37): ENSG00000140937
OMIM: 600023, Gene2Phenotype
CDH11 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

37% of Teebi cohort had ID. All variants were missense.

EWS: LoF is the established mechanism. ID is a feature in addition to brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3.
Created: 9 Apr 2021, 3:18 a.m. | Last Modified: 9 Apr 2021, 3:18 a.m.

Panel Version: 0.3606

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome

Publications

Created: 9 Apr 2021, 3:18 a.m.
Last Modified: 9 Apr 2021, 3:18 a.m.
Panel version: 0.3606

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Li et al (2021) report 19 subjects from 9 families with Teebi hypertelorism syndrome (hypertelorism, prominent forehead, short nose, broad/depressed nasal root, cardiac and umbilical defects). Patients had heterozygous missense variants affected residues in the extracellular region of CDH11. Immunohistochemical study demonstrates that CDH11 is strongly expressed in human facial mesenchyme. Using multiple functional assays, they showed 5 variants significantly reduced the cell-substrate trans adhesion activity and changed cell morphology, focal adhesion, and migration, suggesting dominant negative effect. Some clinical features distinguished this phenotype from that seen in SPECC1L-related hypertelorism syndrome and CDH11-related EWS.

Note: Biallelic variants in CDH11 (in transmembrane and intracellular domains) associated with Elsahy-Waters syndrome (OMIM 211380)
Created: 9 Apr 2021, 12:59 a.m. | Last Modified: 9 Apr 2021, 12:59 a.m.

Panel Version: 0.3606

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Teebi hypertelorism syndrome

Publications

PMID: 33811546

Created: 9 Apr 2021, 12:59 a.m.
Last Modified: 9 Apr 2021, 12:59 a.m.
Panel version: 0.3606

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Elsahy-Waters syndrome, MIM# 211380
Teebi hypertelorism syndrome

OMIM

600023

Clinvar variants

Variants in CDH11

Penetrance

None

Publications

Panels with this gene