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Intellectual disability

Gene: CDH11

Green List (high evidence)

CDH11 (cadherin 11)
EnsemblGeneIds (GRCh38): ENSG00000140937
EnsemblGeneIds (GRCh37): ENSG00000140937
OMIM: 600023, Gene2Phenotype
CDH11 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Association with biallelic variants well-established, with ID reported in all cases to date. On the other hand, DD/ID is variable in individuals with monoallelic variants (PMID: 33811546) - 7/19 cases (4 families) presented a developmental phenotype including very mild speech delays in 5/7, mild-moderate DD in 1/7, and global delay in 1/7 individuals.

Overall, given the mostly mild degree of cognitive delay, as well as intra- and interfamilial reduced penetrance of this feature, there is currently not enough evidence to rate as Green on this panel for the monoallelic disease.
Created: 4 May 2021, 3:17 p.m. | Last Modified: 4 May 2021, 3:17 p.m.
Panel Version: 3.1057

Zornitza Stark (Australian Genomics)

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 affecting residues in the extracellular region of CDH11. Immunohistochemical study demonstrated 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. 37% of Teebi cohort had ID. All variants were missense.

EWS: bi-allelic LoF is the established mechanism.
Created: 17 Apr 2021, 7:42 a.m. | Last Modified: 17 Apr 2021, 7:42 a.m.
Panel Version: 3.1018

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Elsahy-Waters syndrome, OMIM:211380
  • Teebi hypertelorism syndrome
OMIM
600023
Clinvar variants
Variants in CDH11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CDH11 were set to 27431290; 29271567

4 May 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CDH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CDH11 was added to Intellectual disability panel. Sources: Expert Review Green,Literature

12 Mar 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

CDH11 was created by Ellen McDonagh