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Fetal anomalies

Gene: CELSR3

Amber List (moderate evidence)
CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000008300
EnsemblGeneIds (GRCh37): ENSG00000008300
OMIM: 604264, Gene2Phenotype
CELSR3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Created: 26 Feb 2026, 3:06 p.m. | Last Modified: 26 Feb 2026, 3:06 p.m.
Panel Version: 6.140
PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.
Created: 26 Feb 2026, 3:02 p.m. | Last Modified: 26 Feb 2026, 3:02 p.m.
Panel Version: 6.138
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719

Publications

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 6.138

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Not a convincing gene-disease association. Paper describes a 'hypothesis that bi-allelic variants in CELSR3 are involved in a probable genetic disease mainly affecting the CNS and urinary tract'. Unclear how variants were identified and from what cohort; CNS features are not structural. May be a predisposition factor rather than monogenic cause.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO#0700092, CELSR3-related

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • congenital anomaly of kidney and urinary tract, MONDO:0019719
Tags
Q1_26_promote_green Q1_26_expert_review
OMIM
604264
Clinvar variants
Variants in CELSR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: celsr3 has been classified as Amber List (Moderate Evidence).

26 Feb 2026, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: CELSR3. Tag Q1_26_expert_review tag was added to gene: CELSR3.

26 Feb 2026, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CELSR3 was added gene: CELSR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CELSR3 were set to 38429302 Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder, MONDO:0700092, CELSR3-related