Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

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

1 review

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, 10:39 a.m. | Last Modified: 29 Sep 2020, 10:39 a.m.
Panel Version: 0.77

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255

Publications

History Filter Activity

29 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255

29 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GATA3 were set to

29 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA3 was added gene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATA3 was set to Unknown