GATA3

GATA binding protein 3
OMIM: 131320, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GATA3 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Green GATA3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Level 2: Renal and urinary tract disorders Version 0.117 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Green GATA3 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Green GATA3 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Green GATA3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Amber GATA3 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Immune dysregulation Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255
Green GATA3 in Immune_markers_WTS_UMCCR Level 2: Cancer Version 0.75	review	Unknown	Sources Expert list Expert Review Green Tags umccr
Green GATA3 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Green GATA3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Amber GATA3 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	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
Green GATA3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255 Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
Green GATA3 in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797
Green GATA3 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags treatable endocrine deafness
Green GATA3 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255