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  3. CELSR1
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DDG2P

Gene: CELSR1

Red List (low evidence)
CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000075275
EnsemblGeneIds (GRCh37): ENSG00000075275
OMIM: 604523, Gene2Phenotype
CELSR1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CELSR1-related fetal hydrops are limited, monoallelic_autosomal and loss of function (PMID:38272662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03683.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CELSR1-related fetal hydrops is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38272662).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0015193; CELSR1-related fetal hydrops

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • CELSR1-related fetal hydrops
OMIM
604523
Clinvar variants
Variants in CELSR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CELSR1 was changed from Other to None

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CELSR1 was added gene: CELSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CELSR1 were set to 38272662 Phenotypes for gene: CELSR1 were set to CELSR1-related fetal hydrops Mode of pathogenicity for gene: CELSR1 was set to Other