Paediatric disorders - additional genes
Gene: GATA3

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.

Panel Version: 1.96

Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Created: 19 Oct 2020, 2:15 p.m. | Last Modified: 19 Oct 2020, 2:15 p.m.

Panel Version: 1.58

Created: 19 Oct 2020, 2:15 p.m.
Last Modified: 19 Oct 2020, 2:15 p.m.
Panel version: 1.58

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated from Amber to Green awaiting GLH review. GATA3 HDR syndrome includes hypoparathyroidism and sensorineural deafness in addition to renal dysplasia.
Created: 14 May 2020, 3:50 p.m. | Last Modified: 14 May 2020, 3:50 p.m.

Panel Version: 1.43

PMID:11389161. Muroya et al., 2001 report 9 Japanese families with HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia). Heterozygous gross deletions were reported by FISH in 4 families. Sequence analysis showed heterozygous novel variants in 3 families. 2 families had no GATA3 abnormalities detected.
Created: 14 May 2020, 3:49 p.m. | Last Modified: 14 May 2020, 3:49 p.m.

Panel Version: 1.42

GATA3 has an Amber rating on Clefting panel v2.3.
Created: 14 May 2020, 3:42 p.m. | Last Modified: 14 May 2020, 3:42 p.m.

Panel Version: 1.42

Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:16 p.m. | Last Modified: 12 May 2020, 4:16 p.m.

Panel Version: 1.4

Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that GATA3 is on V14.137 Paediatric panel already but with Amber rating.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.

Panel Version: 1.4

Created: 12 May 2020, 3:57 p.m.
Last Modified: 12 May 2020, 3:57 p.m.
Panel version: 1.42

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Other

Phenotypes

CAKUT
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

OMIM

131320

Clinvar variants

Variants in GATA3

Penetrance

None

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GATA3.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GATA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gata3 has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 3