Primary lymphoedemaGene: ARAP3
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 5 May 2021, 3:39 p.m. | Last Modified: 5 May 2021, 3:39 p.m.
Panel Version: 2.12
Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data.
Created: 17 Apr 2021, 7:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: arap3 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: ARAP3.
Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297
gene: ARAP3 was added gene: ARAP3 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARAP3 were set to 32908855 Phenotypes for gene: ARAP3 were set to Lymphoedema Review for gene: ARAP3 was set to AMBER