Clefting disorders
Gene: GATA3
GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Amber
- Expert list
- Phenotypes
-
- HDR syndrome
- Barakat syndrome
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
- OMIM
- 131320
- Clinvar variants
- Variants in GATA3
- Penetrance
- None
- Publications
- 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
16 Sep 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GATA3 was added gene: GATA3 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA3 were set to 10935639; 11389161; 28303854; 21834031; 19659764 Phenotypes for gene: GATA3 were set to HDR syndrome; Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255