Nucleotide metabolism disorders

Gene: ABCC6

Green List (high evidence)

GACI is a treatable disorder.

Created: 20 Sep 2022, 5:25 a.m. | Last Modified: 20 Sep 2022, 5:25 a.m.

Panel Version: 1.335

Comment when marking as ready: Evidence for mono-allelic variants causing disease is limited.

Created: 9 Oct 2020, 8:19 a.m. | Last Modified: 9 Oct 2020, 8:19 a.m.

Panel Version: 0.4853

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arterial calcification, generalized, of infancy, 2, MIM# 614473

Publications

• 33005041
• 34355424

Green List (high evidence)

All conditions are regarded as a single disorder at variable ends of the phenotypic spectrum. The same variants have been reported in all three conditions, however reports for AD PXE are consistently from older papers (pre-2005) and may have missed a 2nd hit (OMIM). More recent papers consistently report this condition as autosomal recessive (PMID: 28102862).

In addition to missense, PTCs and splice variants, deletions and duplications in this gene comprise a significant proportion of variants and are a recognised mechanism / cause of PXE.

Created: 7 Oct 2020, 3:07 a.m. | Last Modified: 9 Oct 2020, 4:22 a.m.

Panel Version: 0.4843

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum (MIM#264800), AR

Publications

• PMID: 28102862

PMID: 11536079; 101 unrelated patients with Pseudoxanthoma elasticum

Created: 1 Mar 2020, 10:23 p.m. | Last Modified: 1 Mar 2020, 10:23 p.m.

Panel Version: 0.1570

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum (MIM# 264800)

Publications

• PMID: 11536079