Brain Calcification
Gene: GATA3EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels
1 review
Yetong Chen (University of Melbourne)
PMID 19248180 reports a patient with a GATA3 variant who developed basal ganglia calcification.
PMID 26268891 reports a patient with a GATA3 variant who developed multiple intracranial calcifications.
PMID 16912130 reports a patient with a GATA3 variant who developed basal ganglia calcification.
PMID 15337474 reports a patient with a chromosome 10p deletion, where the GATA3 gene is located, who developed basal ganglia calcification.
Sources: Expert listCreated: 10 Apr 2023, 12:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: GATA3 was added gene: GATA3 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA3 were set to 32642802; 19248180; 26268891; 16912130; 15337474 Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Review for gene: GATA3 was set to GREEN