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| Disorders of immune dysregulation v0.70 | GATA3 | Zornitza Stark Mode of pathogenicity for gene: GATA3 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark Marked gene: GATA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark Added comment: Comment when marking as ready: Dominant negative effect proposed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark Marked gene: GATA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.69 | GATA3 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.68 | GATA3 | Zornitza Stark Classified gene: GATA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.68 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.67 | GATA3 |
Elena Savva 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 Added comment: 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 |
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