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  3. CELSR1
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Primary lymphoedema

Gene: CELSR1

Green List (high 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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: OMIM record last accessed on 28 October 2025.
Created: 28 Oct 2025, 5:39 p.m. | Last Modified: 28 Oct 2025, 5:39 p.m.
Panel Version: 4.13
Created: 28 Oct 2025, 5:39 p.m.
Last Modified: 28 Oct 2025, 5:39 p.m.
Panel version: 4.13

Pia Ostergaard (St George's)

Green List (high evidence)

We are reporting CELSR1 LOF variants through our local VUS MDT.
Created: 23 Oct 2025, 10:16 a.m. | Last Modified: 23 Oct 2025, 10:16 a.m.
Panel Version: 4.10

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

Phenotypes
primary lymphoedema

Publications

Created: 23 Oct 2025, 10:16 a.m.
Last Modified: 23 Oct 2025, 10:16 a.m.
Panel version: 4.10

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 7 variants reported, showing incomplete penetrance, whereby male carries did not manifest with lymphoedema except in later life (PMID 31215153).
Created: 22 Aug 2019, 1:12 p.m. | Last Modified: 22 Aug 2019, 1:12 p.m.
Panel Version: 1.104
Sources: Expert list
Created: 22 Aug 2019, 1:07 p.m.

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

Phenotypes
hereditary lymphedema

Publications

Created: 22 Aug 2019, 1:07 p.m.

Panel version: 1.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphatic malformation 9, OMIM:619319
OMIM
604523
Clinvar variants
Variants in CELSR1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

28 Oct 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319 to Lymphatic malformation 9, OMIM:619319

28 Oct 2025, Gel status: 3

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: CELSR1 were set to 31403174; 26855770; 31215153

21 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319

22 Aug 2019, Gel status: 3

Set penetrance

Sarah Leigh (Genomics England Curator)

Penetrance for gene CELSR1 was set from to None

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: celsr1 has been classified as Green List (High Evidence).

22 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CELSR1 was added gene: CELSR1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CELSR1 were set to 31403174; 26855770; 31215153 Phenotypes for gene: CELSR1 were set to hereditary lymphedema Review for gene: CELSR1 was set to GREEN