GATA1

GATA binding protein 1
OMIM: 305371, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green GATA1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review 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

No list GATA1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.26

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835

Green GATA1 in COVID-19 research


Level 2: Viral research
Version 1.76

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Congenital neutropaenia v1.22
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • Congenital neutropaenia v1.22
Phenotypes
  • neutropenia
  • dyserythropoietic anaemia
  • thrombocytopenia
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835

Amber GATA1 in Non-acute porphyrias


Version 1.21
Latest signed off version: v1.4 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367
  • thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Tags
  • watchlist

Amber GATA1 in Limb disorders


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radial Ray abnormality

    Green GATA1 in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.158

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • X-linked thrombocytopenia with dyserythropoiesis

    Green GATA1 in Primary immunodeficiency


    Version 2.402
    Latest signed off version: v2.1 (24 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • Expert Review Green
    • Congenital neutropaenia v1.22
    Phenotypes
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
    • thrombocytopenia
    • dyserythropoietic anaemia
    • neutropenia

    Green GATA1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.84

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Myelodysplastic syndrome (MDS), Paediatric
    • Diamond Blackfan Anaemia
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367

    Green GATA1 in Cutaneous photosensitivity with a likely genetic cause


    Version 1.7
    Latest signed off version: v1.3 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Congenital erythropoietic porphyria
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367

    Green GATA1 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.15
    Latest signed off version: v2.2 (18 Feb 2020)

    review 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

    Green GATA1 in Rare anaemia


    Version 1.18
    Latest signed off version: v1.2 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
    • Diamond-Blackfan anaemia
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
    • 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
    • Diamond Blackfan Anaemia
    • 300367 Diamond Blackfan Anaemia
    • Myelodysplastic syndrome (MDS), Paediatric
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367

    Green GATA1 in Bleeding and platelet disorders


    Version 1.25
    Latest signed off version: v1.24 (18 Aug 2021)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

    Green GATA1 in Cytopenia - NOT Fanconi anaemia


    Version 1.36
    Latest signed off version: v1.29 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert review Green
    • Expert Review Green
    • London South GLH
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • 314050 Thrombocytopenia with beta-thalassemia, X-linked
    • Diamond Blackfan Anaemia
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
    • Myelodysplastic syndrome (MDS), Paediatric
    • Anaemia
    • thrombocytopenia

    Green GATA1 in Severe Paediatric Disorders


    Version 1.66

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
    • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
    • Thrombocytopenia with beta-thalassemia, X-linked, 314050

    Green GATA1 in NewbornFullV1


    Version 0.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green