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| Genomic newborn screening: BabyScreen+ v0.1282 | PIGA | Zornitza Stark Marked gene: PIGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1282 | PIGA | Zornitza Stark Gene: piga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1282 | PIGA | Zornitza Stark Classified gene: PIGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1282 | PIGA | Zornitza Stark Gene: piga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1281 | PIGA | Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1272 | PIGA | John Christodoulou reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32256299, PMID: 24706016, PMID: 25885527, PMID: 24259184; Phenotypes: hypotonia, infantile epileptic encephalopathy, facial dysmorphism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 |
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