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  3. CDH11
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Fetal anomalies

Gene: CDH11

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

3 reviews

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Green in DDG2P and Intellectual disability. No new literature to support upgrade since last review in Sept 2025.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Teebi hypertelorism syndrome 2, OMIM:619736

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Arina Puzriakova (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Only green for biallelic from on ID & DDG2P in UK panelapp. Aus - green for both frontnasal dysplasia & ID. Monoallelic. PMID: 33811546 19 individuals, 9 families Teebi hypertelorism syndrome (hypertelorism, prominent forehead, short nose, broad/depressed nasal root, 5/19 cardiac (2xstructural: 1x hypoplastic left heart, 1xASD, ebstein anomaly and pulmonary hypoplasia) and 3/13 umbilical defects, 4/8 hypospadia; 7/19 syndactyly. Biallelic. PMID 29271567 6 publications summarised in this one 11 probands all consaguineous, multiple variants all LOF. brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; vertebral fusions, particularly at C2-C3. 1 report of polyhydramnios. Other Teebi gene on FA panel but associated with CDH & CC anomalies.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Elsahy-Waters syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Teebi hypertelorism syndrome 2, OMIM:619736
  • Elsahy-Waters syndrome
OMIM
600023
Clinvar variants
Variants in CDH11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Teebi hypertelorism syndrome 2, OMIM:619736 for gene: CDH11

5 Sep 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CDH11 was added gene: CDH11 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CDH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDH11 were set to 33811546; 29271567 Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome