Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Pulmonary arterial hypertension v2.9 ABCC8 Ivone Leong Tag for-review tag was added to gene: ABCC8.
Pulmonary arterial hypertension v2.9 ABCC8 Ivone Leong Classified gene: ABCC8 as Amber List (moderate evidence)
Pulmonary arterial hypertension v2.9 ABCC8 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Pulmonary arterial hypertension v2.9 ABCC8 Ivone Leong Gene: abcc8 has been classified as Amber List (Moderate Evidence).
Pulmonary arterial hypertension v2.8 ABCC8 Ivone Leong Publications for gene: ABCC8 were set to 31406341; 30354297
Pulmonary arterial hypertension v2.4 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Pulmonary arterial hypertension. Sources: Expert list
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC8 were set to 31406341; 30354297
Phenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Review for gene: ABCC8 was set to GREEN
gene: ABCC8 was marked as current diagnostic
Added comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Expert list