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 2 panels

1 review

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

Details

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

History Filter Activity

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