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Fetal hydrops

Gene: GATA1

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).
Created: 9 Jul 2024, 3:12 p.m. | Last Modified: 9 Jul 2024, 3:12 p.m.
Panel Version: 1.83

Phenotypes
Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083

Publications

Created: 9 Jul 2024, 3:12 p.m.
Last Modified: 9 Jul 2024, 3:12 p.m.
Panel version: 1.83

Irina Adamena (Children's Clinical University Hospital)

Green List (high evidence)

Gene with strong evidence for fetal hydrops (PMID: 33082562)
Created: 11 Apr 2024, 4:16 p.m. | Last Modified: 11 Apr 2024, 4:16 p.m.
Panel Version: 1.64

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

Phenotypes
Nonimmune hydrops fetalis

Publications

Created: 11 Apr 2024, 4:16 p.m.
Last Modified: 11 Apr 2024, 4:16 p.m.
Panel version: 1.64

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

Created: 30 Dec 2019, 5:39 a.m.

Panel version: 1.16

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835
  • Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GATA1 were changed from Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083

9 Jul 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GATA1 were set to 10700180; 33082562

9 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gata1 has been classified as Green List (High Evidence).

9 Jul 2024, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GATA1 were set to 10700180

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