Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Primary lymphoedema v2.12 ARAP3 Ivone Leong Classified gene: ARAP3 as Amber List (moderate evidence)
Primary lymphoedema v2.12 ARAP3 Ivone Leong Added comment: 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.
Primary lymphoedema v2.12 ARAP3 Ivone Leong Gene: arap3 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v2.11 ARAP3 Ivone Leong Tag watchlist tag was added to gene: ARAP3.
Primary lymphoedema v2.9 ARAP3 Ivone Leong Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297
Primary lymphoedema v2.8 ARAP3 Zornitza Stark 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
Added comment: 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.
Sources: Literature