1. Genes and Genomic Entities
  2. GATA3

GATA3

GATA binding protein 3
OMIM: 131320, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red GATA3 in Familial Neural Tube Defects


Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Sensorineural deafness, renal dysplasia, hypoparathyroidism
Green GATA3 in Familial hypoparathyroidism


Level 2: Endocrinology
Version 3.5
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Green GATA3 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Green GATA3 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Green GATA3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255
  • Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
Green GATA3 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
    Green GATA3 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia
    Amber GATA3 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
    • Barakat syndrome
    • HDR syndrome
    Green GATA3 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.35
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • CAKUT
    • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
    • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
    Green GATA3 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.6
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255