Familial hypoparathyroidism

Gene: GATA3

Green List (high evidence)

GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:39 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. One reviewer recommends Green. Current diagnostic
Created: 3 Jun 2016, 1:56 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

Generally associated with HDR syndrome or minimally Hypoparathyroidism plus 1 of either deafness or renal impairment.
Created: 13 Oct 2015, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HDR syndrome

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

3 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

3 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

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

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen