Primary lymphoedemaGene: CELSR1
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 for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319
Penetrance for gene CELSR1 was set from to None
Gene: celsr1 has been classified as Green List (High Evidence).
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