PanelApp
  1. Genes and Genomic Entities
  2. GATA3

GATA3

GATA binding protein 3
OMIM: 131320, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green GATA3 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.127

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 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 1.3499

    		1 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 1.28

    		2 reviews 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 1.238

    		1 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 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews 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 Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.82

    		1 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

    		1 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 0.278

    		0 reviews 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 1.465

    		1 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 1.7

    		1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews 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 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  2 reviews 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