Pulmonary arterial hypertensionGene: ABCC8
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.
Created: 3 Dec 2020, 9:59 a.m. | Last Modified: 3 Dec 2020, 9:59 a.m.
Panel Version: 2.9
Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Expert list
Created: 27 Jul 2020, 12:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review tag was added to gene: ABCC8.
Gene: abcc8 has been classified as Amber List (Moderate Evidence).
Publications for gene: ABCC8 were set to 31406341; 30354297
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