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| BabyScreen+ newborn screening v1.114 | CDH1 | Tommy Li Added phenotypes Gastric cancer; Orofacial clefts for gene: CDH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | PCDH15 | Tommy Li Added phenotypes Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 for gene: PCDH15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1710 | PCDH15 | Zornitza Stark Tag deafness tag was added to gene: PCDH15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.803 | PCDH15 | Zornitza Stark Marked gene: PCDH15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.803 | PCDH15 | Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.803 | PCDH15 | Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.802 | PCDH15 | David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CDH1 |
Zornitza Stark gene: CDH1 was added gene: CDH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDH1 were set to Orofacial clefts; Gastric cancer |
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| BabyScreen+ newborn screening v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome |
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