Pulmonary arterial hypertension

Gene: ABCC8

Amber List (moderate evidence)

ABCC8 (ATP binding cassette subfamily C member 8)
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 12 panels

2 reviews

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)

Green List (high evidence)

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

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 Amber
Phenotypes
  • Diabetes mellitus
  • Hypoglycaemia
  • Pulmonary arterial hypertension
Tags
for-review
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ABCC8.

3 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abcc8 has been classified as Amber List (Moderate Evidence).

3 Dec 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ABCC8 were set to 31406341; 30354297

27 Jul 2020, Gel status: 0

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