Familial Neural Tube Defects

Gene: GATA3

Red List (low evidence)

GATA3 (GATA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000107485
EnsemblGeneIds (GRCh37): ENSG00000107485
OMIM: 131320, Gene2Phenotype
GATA3 is in 9 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Sensorineural deafness, renal dysplasia, hypoparathyroidism
OMIM
131320
Clinvar variants
Variants in GATA3
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

22 Sep 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GATA3 was added to Familial Neural Tube Defectspanel. Sources: UKGTN

22 Sep 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

GATA3 was created by oniblock