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Hydrops fetalis

Gene: GATA2

Amber List (moderate evidence)
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Typically presents with lower limb oedema but at least one presentation with hydrops reported.
Sources: Expert list
Created: 14 Aug 2020, 12:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Emberger syndrome, MIM# 614038

Publications

Created: 14 Aug 2020, 12:21 a.m.

Panel version: 0.159

History Filter Activity

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata2 has been classified as Amber List (Moderate Evidence).

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata2 has been classified as Amber List (Moderate Evidence).

14 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA2 was added gene: GATA2 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to 21892158 Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038 Review for gene: GATA2 was set to AMBER