Pseudoxanthoma elasticum
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 #264800) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:48 a.m. | Last Modified: 29 Dec 2025, 11:48 a.m.
Panel Version: 1.2
ABCC6 has been added to the panel for R420 Pseudoxanthoma elasticum with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:26 p.m. | Last Modified: 30 Jun 2023, 3:26 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Pseudoxanthoma elasticum, OMIM:264800
- autosomal recessive inherited pseudoxanthoma elasticum, MONDO:0009925
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; autosomal recessive inherited pseudoxanthoma elasticum, MONDO:0009925
30 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 Pseudoxanthoma elasticum. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal