Generalised arterial calcification in infancy
Gene: ABCC6
ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #61447) and the OMIM record was last accessed on 18 December 2025.Created: 18 Dec 2025, 10:56 a.m. | Last Modified: 18 Dec 2025, 10:56 a.m.
Panel Version: 1.2
ABCC6 has been added to the panel for R384 Generalised arterial calcification in infancy with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:17 p.m. | Last Modified: 30 Jun 2023, 1:17 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Arterial calcification, generalized, of infancy, 2, OMIM:614473
- arterial calcification, generalized, of infancy, 2, MONDO:0013768
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Familial cerebral small vessel disease
- Pseudoxanthoma elasticum
- Cerebral vascular malformations
- Generalised arterial calcification in infancy
History Filter Activity
18 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ABCC6 were changed from to Arterial calcification, generalized, of infancy, 2, OMIM:614473; arterial calcification, generalized, of infancy, 2, MONDO:0013768
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ABCC6 was added gene: ABCC6 was added to Generalised arterial calcification in infancy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal