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| Additional findings_Paediatric v0.270 | ACADS | Zornitza Stark changed review comment from: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. Some mildly affected individuals are being identified as part of newborn screening programs. However, a diagnosis of this disorder has the potential for avoidance of unnecessary investigations, therefore promoted to Green.; to: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.243 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis. PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. Sources: Expert Review |
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| Additional findings_Paediatric v0.48 | CARD11 |
Zornitza Stark gene: CARD11 was added gene: CARD11 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23561803; 12818158; 23374270; 28628108 Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206 Review for gene: CARD11 was set to GREEN Added comment: At least two individuals with bi-allelic, and four with mono-allelic variants, animal model. Included in NC NEXUS panel. Sources: Expert list |
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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 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih |
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