Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: GATA1

Red List (low evidence)

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

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Familial MDS (Myelodysplastic syndromes)
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GATA1 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN