Deafness_Isolated
Gene: GATA3

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, 10:35 a.m. | Last Modified: 29 Sep 2020, 10:35 a.m.

Panel Version: 0.467

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 29 Sep 2020, 10:35 a.m.
Last Modified: 29 Sep 2020, 10:35 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.467

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

131320

Clinvar variants

Variants in GATA3

Penetrance

None

Publications

Panels with this gene