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| Pulmonary Arterial Hypertension v1.19 | ABCC8 | Zornitza Stark reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924, ABCC8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.55 | ABCC8 | Zornitza Stark Marked gene: ABCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.55 | ABCC8 | Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.27 | ABCC8 | Bryony Thompson Classified gene: ABCC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.27 | ABCC8 | Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.26 | ABCC8 |
Bryony Thompson gene: ABCC8 was added gene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Added comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene. Sources: Literature |
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