Familial hypoparathyroidism
Gene: GATA3EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 10 families reported, rated as DEFINITIVE by ClinGen.Created: 29 Sep 2020, 10:37 a.m. | Last Modified: 29 Sep 2020, 10:37 a.m.
Panel Version: 0.4640
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
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: gata3 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: GATA3 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gata3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GATA3 was added gene: GATA3 was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797 Review for gene: GATA3 was set to GREEN