Unexplained kidney failure in young people
Gene: GATA3
GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 12:55 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
- OMIM
- 131320
- Clinvar variants
- Variants in GATA3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Aug 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GATA3 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)GATA3 was created by sleigh