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  3. ABCC6
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Mackenzie's Mission_Reproductive Carrier Screening

Gene: ABCC6

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

1 review

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Decision to exclude gene from MM list on 01/04/21.

The gene-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.
Created: 9 Apr 2021, 6:24 a.m. | Last Modified: 9 Apr 2021, 6:24 a.m.
Panel Version: 0.54
Variable severity caused by variants in this gene - most mutations cause PXE, but severe end of spectrum meets MM criteria (lethal in childhood). Genotype-phenotype relationship unpredictable.
Created: 16 Oct 2020, 4:09 a.m. | Last Modified: 16 Oct 2020, 4:09 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Oct 2020, 4:09 a.m.
Last Modified: 16 Oct 2020, 4:09 a.m.
Panel version: 0.54

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

15 Apr 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: abcc6 has been classified as Red List (Low Evidence).

16 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: abcc6 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3)