Pulmonary arterial hypertension
Gene: ABCC8EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 1:56 p.m. | Last Modified: 4 Dec 2024, 1:56 p.m.
Panel Version: 3.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Expert listCreated: 27 Jul 2020, 12:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Diabetes mellitus
- Hypoglycaemia
- Pulmonary arterial hypertension
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Pulmonary arterial hypertension
- Multi-organ autoimmune diabetes
- Ketotic hypoglycaemia
- Intellectual disability
- Fetal anomalies
- Neonatal diabetes - small panel
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Monogenic diabetes
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: ABCC8. Tag to_be_confirmed_NHSE was removed from gene: ABCC8.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ABCC8. Source Expert Review Green was added to ABCC8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ABCC8.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: ABCC8.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: abcc8 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ABCC8 were set to 31406341; 30354297
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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