Monogenic hearing loss
Gene: GATA3
Comment on mode of inheritance: Not on imprinted gene list.Created: 17 Feb 2016, 3:10 p.m.
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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:23 p.m.
Phenotypes for GATA3 were set to #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia
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
Mode of inheritance for GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen
GATA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert,UKGTN,Radboud University Medical Center, Nijmegen