Disorders of immune dysregulation

Gene: GATA3

Amber List (moderate evidence)

GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Dominant negative effect proposed.
Created: 28 Oct 2020, 9:28 a.m. | Last Modified: 28 Oct 2020, 9:28 a.m.
Panel Version: 0.69

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 31238969: patient with protein elongation variant p.(M401Vfs*106) has an additional phenotype of juvenile idiopathic arthritis. Functional studies on the variant support pathogenicity, and analysis of patient cells indicate defective T helper cell differentiation and cytokine production.
Sources: Literature
Created: 27 Oct 2020, 9:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immune dysregulation
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255
OMIM
131320
Clinvar variants
Variants in GATA3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: GATA3 was changed from None to Other

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata3 has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata3 has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata3 has been classified as Amber List (Moderate Evidence).

27 Oct 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: GATA3 was added gene: GATA3 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA3 were set to PMID: 31238969 Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Review for gene: GATA3 was set to AMBER gene: GATA3 was marked as current diagnostic