Fetal hydrops

Gene: GATA1

No list

GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Created: 30 Dec 2019, 5:39 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: GATA1 was added gene: GATA1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 10700180 Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 Review for gene: GATA1 was set to GREEN gene: GATA1 was marked as current diagnostic