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| Additional findings_Paediatric v0.106 | F7 |
Lilian Downie gene: F7 was added gene: F7 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 Review for gene: F7 was set to GREEN Added comment: Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity. Not reviewed by Babyseq, included in NC NEXUS list. Bleeding treatable with factor replacement. Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PYGM |
Lilian Downie gene: PYGM was added gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 Review for gene: PYGM was set to GREEN Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Not reviewed by Babyseq, included in NCNEXUS newborn screening list. Actionable by controlled physical activity and programmed glucose intake. Sources: Expert list |
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| Additional findings_Paediatric v0.2 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency |
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| Additional findings_Paediatric v0.2 | AMACR | Zornitza Stark Added phenotypes Alpha-methylacyl-CoA racemase deficiency for gene: AMACR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CP |
Zornitza Stark gene: CP was added gene: CP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminaemia |
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| Additional findings_Paediatric v0.2 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency |
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| Additional findings_Paediatric v0.2 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency |
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| Additional findings_Paediatric v0.2 | ACE | Zornitza Stark Added phenotypes Renal tubular dysgenesis for gene: ACE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACAT1 | Zornitza Stark Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ACE |
Zornitza Stark gene: ACE was added gene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis |
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| Additional findings_Paediatric v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria |
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