Activity

Filter

Cancel
Date Panel Item Activity
3 actions
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