GATA3

GATA binding protein 3
OMIM: 131320
PanelMode of inheritanceDetails
5 panels
R-numbers: R153
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255, Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
R-numbers: R67
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT, Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255, Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
R-numbers: R257
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255, Hypoparathyroidism, Sensorineural Deafness, and Renal Disease