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| BabyScreen+ newborn screening v1.114 | PDHB | Tommy Li Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111 for gene: PDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2171 | PDHB | Zornitza Stark Marked gene: PDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2171 | PDHB | Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2171 | PDHB | Zornitza Stark Classified gene: PDHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2171 | PDHB | Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2170 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Baby Screen+ newborn screening. Sources: Expert Review treatable, metabolic tags were added to gene: PDHB. Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111 Review for gene: PDHB was set to GREEN Added comment: Well established gene-disease association. Clinical presentation is in infancy. Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine Non-genetic confirmatory testing: enzymology Included for consistency with PDHA1/PDHX Sources: Expert Review |
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