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  3. GATA3
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Calcium and Phosphate disorders

Gene: GATA3

Green List (high evidence)
GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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
Created: 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

Created: 28 Nov 2022, 9:20 p.m.

Panel version: 0.64

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 29 Sep 2020, 10:37 a.m.
Last Modified: 29 Sep 2020, 10:37 a.m.
Panel version: Imported from Mendeliome panel version 0.4640

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
OMIM
131320
Clinvar variants
Variants in GATA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gata3 has been classified as Green List (High Evidence).

28 Nov 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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