Congenital neutropaenia

Gene: GATA1

Red List (low evidence)

GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 in OMIM, but expert reviewer states "Neutropenia is very variable in this disorder" and gives a red rating. No association with disease on G2P and found in 1/4 sources
Created: 25 May 2016, 7:38 a.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Neutropenia is very variable in this disorder
Created: 19 Oct 2015, 10:43 p.m.

History Filter Activity

25 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA1 was added to Congenital neutropaeniapanel. Source: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GATA1 was added to Congenital neutropaeniapanel. Sources: UKGTN