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| BabyScreen+ newborn screening v0.585 | ABCC6 |
Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate. However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate. However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity. There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9. |
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| BabyScreen+ newborn screening v0.56 | ABCC6 | Zornitza Stark Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.56 | ABCC6 | Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.56 | ABCC6 | Zornitza Stark Tag for review tag was added to gene: ABCC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.56 | ABCC6 |
Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate.; to: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate. However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9. |
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| BabyScreen+ newborn screening v0.56 | ABCC6 | Zornitza Stark Publications for gene: ABCC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.55 | ABCC6 | Zornitza Stark Tag treatable tag was added to gene: ABCC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.55 | ABCC6 | Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33005041, 34355424; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473 |
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