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| Genomic newborn screening: BabyScreen+ v0.1710 | PDX1 |
Zornitza Stark Tag treatable tag was added to gene: PDX1. Tag endocrine tag was added to gene: PDX1. |
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| Genomic newborn screening: BabyScreen+ v0.808 | PDX1 | Zornitza Stark Marked gene: PDX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.808 | PDX1 | Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.808 | PDX1 | Zornitza Stark Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.802 | PDX1 | David Amor reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.738 | PDHX | Zornitza Stark Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.736 | PDHX | Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | PDX1 |
Zornitza Stark gene: PDX1 was added gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370 |
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