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Gene: ABCC6

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Red List (low evidence)

The genotype-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare, ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion.

There are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.

Copied from MM gene review 9/4/21
Created: 9 Sep 2024, 4:24 a.m. | Last Modified: 9 Sep 2024, 4:24 a.m.

Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473

Created: 9 Sep 2024, 4:24 a.m.
Last Modified: 9 Sep 2024, 4:24 a.m.
Panel version: 1.287

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Mackenzie's Mission

Phenotypes

Pseudoxanthoma elasticum MIM#264800
Arterial calcification, generalized, of infancy, 2 MIM#614473

OMIM

603234

Clinvar variants

Variants in ABCC6

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCC6 was added gene: ABCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473

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