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Aortopathy_Connective Tissue Disorders v1.88 ABCC6 Bryony Thompson Classified gene: ABCC6 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v1.88 ABCC6 Bryony Thompson Gene: abcc6 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.87 ABCC6 Bryony Thompson reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23968982, 20301292; Phenotypes: autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.111 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Aortopathy_Connective Tissue Disorders v0.111 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v0.111 ABCC6 Zornitza Stark Classified gene: ABCC6 as Red List (low evidence)
Aortopathy_Connective Tissue Disorders v0.111 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v0.110 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v0.96 ABCC6 Ain Roesley gene: ABCC6 was added
gene: ABCC6 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to PMID: 30071989; 11536079
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum (MIM# 264800)
Review for gene: ABCC6 was set to AMBER
Added comment: PMID: 30071989; not a gene for Heritable Thoracic Aortic Aneurysm and Dissection by Clingen Working Group

PMID: 11536079; a cohort of 122 PXE patients were sequenced and 36 different variants were reported
Sources: Literature