DDG2P
Gene: CELSR3

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)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities are limited, biallelic_autosomal and loss of function (PMID:38429302). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03726.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0100038; CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities

Publications

38429302

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities
MONDO:0100038

OMIM

604264

Clinvar variants

Variants in CELSR3

Penetrance

None

Publications

38429302

Panels with this gene

History Filter Activity

13 Feb 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 DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype 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 CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; MONDO:0100038

DDG2P Gene: CELSR3