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Unexplained young onset end-stage renal disease - additional genes

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Details

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

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GATA3 was added gene: GATA3 was added to Unexplained young onset end-stage renal disease - additional genes. 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 dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease