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| Metal Metabolism Disorders v0.30 | PIGA | Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.30 | PIGA | Zornitza Stark Mode of inheritance for gene: PIGA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.29 | PIGA | Alison Yeung Marked gene: PIGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.29 | PIGA | Alison Yeung Gene: piga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.29 | PIGA | Alison Yeung Classified gene: PIGA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.29 | PIGA | Alison Yeung Gene: piga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.28 | PIGA |
Alison Yeung gene: PIGA was added gene: PIGA was added to Iron metabolism disorders. Sources: Literature Mode of inheritance for gene: PIGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIGA were set to 34875027 Phenotypes for gene: PIGA were set to Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Review for gene: PIGA was set to GREEN Added comment: Heterozygous variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest. Sources: Literature |
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