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Intellectual disability

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (eight patients with ID/DD) for the promotion of this gene to green rating in the next GMS update.
Created: 13 Jan 2026, 12:12 p.m. | Last Modified: 13 Jan 2026, 12:12 p.m.
Panel Version: 9.236
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).

Individuals with predominant CNS or combined CNS and CAKUT phenotypes presented with intellectual disability and/or developmental delay (ID/DD), hypotonia, seizures, brain malformations, NTDs, macro- or microcephaly. ID was present in five patients, GDD in one and DD alone in 2 patients.

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 13 January 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype.
Sources: Literature
Created: 13 Jan 2026, 12:09 p.m. | Last Modified: 13 Jan 2026, 12:26 p.m.
Panel Version: 9.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 13 Jan 2026, 12:09 p.m.
Last Modified: 13 Jan 2026, 12:26 p.m.
Panel version: 9.235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
604264
Clinvar variants
Variants in CELSR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 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).

13 Jan 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: CELSR3.

13 Jan 2026, Gel status: 1

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 Intellectual disability. Sources: Literature 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 Review for gene: CELSR3 was set to GREEN