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  3. GATA1
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Haematological malignancies for rare disease

Gene: GATA1

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

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 26 Jul 2017, 11:14 a.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

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 Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA1 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

GATA1 was created by Ellen McDonagh