Monogenic hearing loss
Gene: GATA3EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 10 panels
4 reviews
Maria Bitner-Glindzicz (UCL)
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
- PMID:10835639
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GATA3 were set to #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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