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| Additional findings_Paediatric v0.15 | BCHE |
Zornitza Stark gene: BCHE was added gene: BCHE was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936 Review for gene: BCHE was set to GREEN Added comment: Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Sources: Expert list |
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| Additional findings_Paediatric v0.2 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Tyrosinemia, type III |
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| Additional findings_Paediatric v0.2 | ACADSB |
Zornitza Stark gene: ACADSB was added gene: ACADSB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency |
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| Additional findings_Paediatric v0.2 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1 |
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| Additional findings_Paediatric v0.2 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency |
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| Additional findings_Paediatric v0.2 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to Tyrosinemia, type II |
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| Additional findings_Paediatric v0.2 | FAH | Zornitza Stark Added phenotypes Tyrosinemia, type I for gene: FAH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACAD8 | Zornitza Stark Added phenotypes Isobutyryl-CoA dehydrogenase deficiency for gene: ACAD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I |
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| Additional findings_Paediatric v0.0 | ACAD8 |
Zornitza Stark gene: ACAD8 was added gene: ACAD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency |
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