Stroke
Gene: ABCC6
Well established gene-disease association. Premature vascular occlusion disease, including stroke.Created: 10 Mar 2021, 12:17 a.m. | Last Modified: 10 Mar 2021, 12:17 a.m.
Panel Version: 0.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850
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
Tag SV/CNV tag was added to gene: ABCC6.
Gene: abcc6 has been classified as Green List (High Evidence).
Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, forme fruste to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850
Mode of inheritance for gene: ABCC6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: ABCC6 was added gene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste