Disorders of immune dysregulation
Gene: GATA3EnsemblGeneIds (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)
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: LiteratureCreated: 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
- PMID: 31238969
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
-
- PMID: 31238969
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Disorders of immune dysregulation
- Deafness_IsolatedAndComplex
- Deafness_Isolated
- Calcium and Phosphate disorders
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
- Brain Calcification
- Familial hypoparathyroidism
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
History Filter Activity
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: GATA3 was changed from None to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata3 has been classified as Amber List (Moderate Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata3 has been classified as Amber List (Moderate Evidence).
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