Cytopenias and congenital anaemias
Gene: GATA1

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: literature added from papers published in 2014 PMID: 24766296, 24952648, 24453067 supports evidence for five families where GATA1 variants cause Diamond-Blackfan Anemia
Created: 13 Mar 2017, 5:02 p.m.

Created: 13 Mar 2017, 5:02 p.m.

Panel version: 1.7

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Appropriate for inclusion. There is no clear evidence to suggest that "loss of function mutations do not cause the phenotype" therefore I think this was selected in error at the initial review.
Created: 28 Feb 2017, 1:47 p.m.

3 separate families identified in PMIDs. Two with splicing mutation and one with missense. Presenting with anaemia +/- thrombocytopaenia
Created: 16 Feb 2017, 4:38 p.m.

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

Phenotypes
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367

Publications

PMID 22706301
10700180

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 16 Feb 2017, 4:38 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.25

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Diamond Blackfan Anaemia

Publications

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

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

Sources

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

Phenotypes

Myelodysplastic syndrome (MDS), Paediatric
Diamond Blackfan Anaemia
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
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

13 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GATA1 were set to 22706301; 10700180; 24766296; 24952648; 24453067

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4