Limb disorders
Gene: GATA1

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This is a fanconi anaemia gene, and therefore the association with radial ray abnormalities.
Created: 7 Nov 2018, 1:26 p.m.

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

Phenotypes
Radial Ray abnormality

Created: 7 Nov 2018, 1:26 p.m.

Panel version: 0.270

Details

Mode of Inheritance

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

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Radial Ray abnormality

OMIM

305371

Clinvar variants

Variants in GATA1

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: This is a fanconi anaemia gene

7 Nov 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to GATA1. Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Radial Ray abnormality for gene: GATA1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services