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| Additional findings_Paediatric v0.106 | FBP1 |
Lilian Downie gene: FBP1 was added gene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700 Review for gene: FBP1 was set to GREEN Added comment: Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | IL7R |
Lilian Downie gene: IL7R was added gene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Review for gene: IL7R was set to GREEN Added comment: SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.75 | DUOXA2 | Zornitza Stark changed review comment from: Evidence for gene-disease association assessed as moderate.; to: Evidence for gene-disease association assessed as moderate. However, treatment available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ATM | Zornitza Stark Added phenotypes Ataxia-telangiectasia for gene: ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia |
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