Cerebral vascular malformations

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

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with Moya moya disease and 2 variants in cis, inherited from unaffected father.
Created: 20 Sep 2021, 1:49 a.m. | Last Modified: 20 Sep 2021, 1:49 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moya moya disease

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Kristin Rigbye (Victorian Clinical Genetics Services)

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

Ain Roesley (Victorian Clinical Genetics Services)

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

History Filter Activity

20 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 May 2020, 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 Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCC6 was set to Unknown Phenotypes for gene: ABCC6 were set to Moyamoya disease