Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Facial papules v0.2 | ABCC6 | Bryony Thompson Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.2 | ABCC6 | Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.2 | ABCC6 | Bryony Thompson Classified gene: ABCC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.2 | ABCC6 | Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.1 | ABCC6 |
Bryony Thompson gene: ABCC6 was added gene: ABCC6 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 20301292 Phenotypes for gene: ABCC6 were set to autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925 Review for gene: ABCC6 was set to GREEN gene: ABCC6 was marked as current diagnostic Added comment: The primary skin lesions present in pseudoxanthoma elasticum are papules that often develop on the lateral aspect of the neck. Sources: Expert list |