Clefting
Gene: GATA3

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: The syndrome been associated with a heart defect and cleft palate and Other atypical findings including retinitis pigmentosa, psoriasis and growth failure. However, clefting does not seem to be a clear feature of this disorder.
Created: 30 May 2017, 2:22 p.m.

Comment on list classification: downgraded from Green to Amber- enough cases to support the disorder but not enough cases in the literature to support clefting phenotype
Created: 30 May 2017, 2:15 p.m.

Comment on publications: Although enough evidence to support the disorder there is not enough cases to support the clefting phenotype - eg: one case reported in PMID:19659764
Created: 30 May 2017, 2:14 p.m.

Comment on phenotypes: added synonyms
Created: 30 May 2017, 2:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255

Created: 30 May 2017, 1:56 p.m.

Panel version: 0.248

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list
UKGTN

Phenotypes

Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Barakat syndrome
HDR syndrome

OMIM

131320

Clinvar variants

Variants in GATA3

Penetrance

Complete

Publications

Panels with this gene