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  2. Familial hypoparathyroidism
  3. GATA3
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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.
Created: 5 Feb 2019, 2:39 p.m.

Panel version: 1.10

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.
Created: 3 Jun 2016, 1:56 p.m.

Panel version: 0.3

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

Created: 13 Oct 2015, 11 a.m.

Panel version: 0

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