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This Panel is marked as Internal

Non-Fanconi anaemia
Gene: GATA1

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

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 4th May 2017.
Created: 4 May 2017, 12:26 p.m.

Comment on list classification: Updated rating from Amber to Green: Green expert review plus >3 unrelated cases of GATA1 variants causing an anaemia phenotype.
Created: 4 May 2017, 12:26 p.m.

The 2014 papers PMID:24766296, 24952648 and 24453067 report GATA1 variants causing Diamond-Blackfan Anemia (DBA).
Created: 4 May 2017, 12:25 p.m.

Comment on mode of inheritance: X-linked recessive mode of inheritance supported by OMIM.
Created: 4 May 2017, 12:18 p.m.

Created: 4 May 2017, 12:25 p.m.

Panel version: 0.306

Helen Savage (Congenica Ltd)

Green List (high evidence)

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

Phenotypes
X-linked anaemia; X-linked thombocytopenia

Created: 26 Jan 2016, 4:18 p.m.

Panel version: 0.228

Details

Mode of Inheritance

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

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Eligibility statement prior genetic testing

Phenotypes

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367

OMIM

305371

Clinvar variants

Variants in GATA1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GATA1 were set to 24766296; 24952648; 24453067

4 May 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GATA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

4 May 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367

4 May 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367

30 Sep 2015, Gel status: 2