Limb disordersGene: GATA1
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
Radial Ray abnormality
Ellen McDonagh: This is a fanconi anaemia gene
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)
GATA1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
GATA1 was created by Ellen McDonagh