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  3. GATA1
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Fetal anomalies

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

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

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

PMID:10700180: 2 cases in same family presenting with severe fetal hydrops at 16 weeks requiring transfusion packed red blood cells. PMID:29949202: patient 1 22 wk preicardial effusion, mild right atrium ectasia, 35.5wks bilateral hydrocephalus, autopsy ambiguous genitialia, pulmonary hypoplasia; patinet 2 37.5 weeks hydrops, micropenis, hepatosplenomegaly, patient 3 increased nuchal first trimester, fetal death at 12 weeks. Cases all related through females PMID:30914438: Patient 2 presented with hydrops requiring transfusion at 22 weeks. In hydrops review. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

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

Phenotypes
Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

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). This gene could be relevant to the fetal anomalies panel.
Created: 9 Jul 2024, 3:12 p.m. | Last Modified: 29 Jul 2024, 5:32 p.m.
Panel Version: 4.33

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

Publications

Created: 9 Jul 2024, 3:12 p.m.
Last Modified: 29 Jul 2024, 5:32 p.m.
Copied from panel: Fetal hydrops v1.86

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.
Copied from panel: Fetal hydrops v1.86

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.

Copied from panel: Fetal hydrops v1.86

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: GATA1. Tag Q3_24_NHS_review was removed from gene: GATA1.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GATA1. Source Expert Review Green was added to GATA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_expert_review was removed from gene: GATA1. Tag Q3_24_NHS_review tag was added to gene: GATA1.

29 Jul 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: GATA1. Tag Q3_24_expert_review tag was added to gene: GATA1.

29 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gata1 has been classified as Amber List (Moderate Evidence).

29 Jul 2024, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: GATA1 was added gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,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; 33082562; 20301538; 30914438; 29949202; 35580337 Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083