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Intellectual disability syndromic and non-syndromic

Gene: CDH11

Green List (high evidence)

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

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

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

History Filter Activity

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh11 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH11 were changed from to Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome

9 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDH11 were set to

9 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH11 was added gene: CDH11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDH11 was set to Unknown