Renal Tubulopathies and related disorders
Gene: GATA3
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 listCreated: 28 Nov 2022, 9:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Publications
Over 10 families reported, rated as DEFINITIVE by ClinGen.Created: 29 Sep 2020, 10:37 a.m. | Last Modified: 29 Sep 2020, 10:37 a.m.
Panel Version: 0.4640
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Publications
gene: GATA3 was added gene: GATA3 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA3 were set to 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722 Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255