Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aortopathy_Connective Tissue Disorders v1.55 | NPR3 | Zornitza Stark Phenotypes for gene: NPR3 were changed from Tall stature, skeletal abnormalities, aortic dilatation to Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v1.54 | NPR3 | Zornitza Stark edited their review of gene: NPR3: Changed phenotypes: Boudin-Mortier syndrome, MIM#619543, Tall stature, skeletal abnormalities, aortic dilatation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.4 | NPR3 | Zornitza Stark Marked gene: NPR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.4 | NPR3 | Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.4 | NPR3 | Zornitza Stark Classified gene: NPR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.4 | NPR3 | Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.3 | NPR3 |
Zornitza Stark gene: NPR3 was added gene: NPR3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to 30032985 Phenotypes for gene: NPR3 were set to Tall stature, skeletal abnormalities, aortic dilatation Review for gene: NPR3 was set to GREEN Added comment: 4 individuals from three unrelated families. Sources: Literature |