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Hearing loss

Gene: GATA3

Green List (high evidence)

GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 8 panels

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Not on imprinted gene list.
Created: 17 Feb 2016, 3:10 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia[Deafness, sensorineural; Septate uterus (rare)Uterus didelphys (rare)Uterine agenesis (rare)Septate vagina (rare)Vaginal agenesis (rare); Renal dysplasiaRenal agenesis, unilateral (in some patients)NephrosisProgressive renal failure; Hypoparathyroidism)]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:23 p.m.

Details

Mode of Inheritance
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
OMIM
131320
Clinvar variants
Variants in GATA3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GATA3 were set to #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GATA3 were set to PMID: 10835639; 10935639; 11021798; 11389161; 12097365; 12923059; 14670303; 14985365; 15207274; 15475959; 15662016; 16912130; 17075044; 17129787; 17210674; 17309062; 1871134; 19248180; 19253381; 2050118; 21834031; 7550312; 7592673; 8088776; 8211130; 9160750; 9261181; 9780145; 9949310

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen