Nephrocalcinosis or nephrolithiasis
Gene: ABCC6
ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
1 review
John Sayer (Newcastle University)
ABCC6 causes autosomal recessive pseudoxanthoma elasticum which can include vascular and tissue calcification including kidney
Emergin evidence of het carriers with nephrolithiasis and nephrocalcinosis phenotypes.
Sources: OtherCreated: 19 Aug 2026, 9:53 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
nephrolithiasis; nephrocalcinosis
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- nephrolithiasis
- nephrocalcinosis
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Ehlers Danlos syndrome with a likely monogenic cause
- Generalised arterial calcification in infancy
- Fetal anomalies
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Cerebral vascular malformations
- Familial cerebral small vessel disease
- DDG2P
- Retinal disorders
- Pseudoxanthoma elasticum
- Rare genetic inflammatory skin disorders
History Filter Activity
19 Aug 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Sayer (Newcastle University)gene: ABCC6 was added gene: ABCC6 was added to Nephrocalcinosis or nephrolithiasis. Sources: Other Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to PMID: 41908612; 33820832 Phenotypes for gene: ABCC6 were set to nephrolithiasis; nephrocalcinosis Penetrance for gene: ABCC6 were set to Incomplete Review for gene: ABCC6 was set to GREEN