Cerebral vascular malformations
Gene: ABCC6
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
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
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: 11536079; 101 unrelated patients with Pseudoxanthoma elasticumCreated: 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
Gene: abcc6 has been classified as Red List (Low Evidence).
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