Clefting
Gene: GATA3Comment 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 phenotypeCreated: 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:19659764Created: 30 May 2017, 2:14 p.m.
Comment on phenotypes: added synonymsCreated: 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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Phenotypes for GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Barakat syndrome; HDR syndrome
This gene has been classified as Amber List (Moderate Evidence).
Publications for GATA3 were set to 28303854; 19659764;10935639;11389161;21834031
Phenotypes for GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Barakat syndrome; HDR syndrome
GATA3 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
GATA3 was created by LouiseD