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  2. Pulmonary Arterial Hypertension
  3. ABCC8
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Pulmonary Arterial Hypertension

Gene: ABCC8

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rated MODERATE by ClinGen but note they did not count 16 of 29 reported individuals due to clinical presentations being more complex than isolated PAH.
Created: 8 Aug 2023, 5:26 a.m. | Last Modified: 8 Aug 2023, 5:26 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pulmonary arterial hypertension MONDO:0015924, ABCC8-related

Created: 8 Aug 2023, 5:26 a.m.
Last Modified: 8 Aug 2023, 5:26 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Literature
Created: 28 Jan 2020, 12:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:20 a.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diabetes mellitus
  • Hypoglycaemia
  • Pulmonary arterial hypertension
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcc8 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abcc8 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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