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  2. Renal and urinary tract disorders
  3. GATA3
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Renal and urinary tract disorders

Gene: GATA3

Green List (high evidence)
GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 10 panels

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 12:55 p.m.
Created: 4 Aug 2016, 12:55 p.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.196

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
OMIM
131320
Clinvar variants
Variants in GATA3
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GATA3 was added gene: GATA3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255