Disorders of immune dysregulation
Gene: GATA3Comment 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
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of pathogenicity for gene: GATA3 was changed from None to Other
Gene: gata3 has been classified as Amber List (Moderate Evidence).
Gene: gata3 has been classified as Amber List (Moderate Evidence).
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
Gene: gata3 has been classified as Amber List (Moderate Evidence).
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