Activity
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3 actions
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Calcium and Phosphate disorders v0.65 | GATA3 | Chirag Patel Classified gene: GATA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Calcium and Phosphate disorders v0.65 | GATA3 | Chirag Patel Gene: gata3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Calcium and Phosphate disorders v0.64 | GATA3 |
Chirag Patel gene: GATA3 was added gene: GATA3 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA3 were set to PMID: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722 Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Review for gene: GATA3 was set to GREEN Added comment: HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Well established association. Sources: Expert list |