GATA2

GATA binding protein 2
OMIM: 137295, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GATA2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Tags treatable
Amber GATA2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Emberger syndrome, MIM# 614038
Green GATA2 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 MONDO:0042982 Emberger syndrome, MIM# 614038 MONDO:0013540 chILD, childhood pulmonary alveolar proteinosis Tags treatable
Green GATA2 in Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Version 0.44 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GATA2 in Mendeliome Version 1.2302	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Tags treatable
Green GATA2 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Leukemia, acute myeloid, susceptibility to}, MIM# 601626
Green GATA2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Green GATA2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.5 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Tags treatable
Green GATA2 in Phagocyte Defects Level 2: Immunological disorders Version 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Emberger syndrome, MIM# 614038
Green GATA2 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services London South GLH Phenotypes {Myelodysplastic syndrome, susceptibility to} 614286 Emberger Syndrome 614038
Green GATA2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 21 MIM# 614172 Emberger syndrome MIM# 614038
Amber GATA2 in Fetal anomalies Version 1.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Emberger syndrome, MIM# 614038
Green GATA2 in IBMDx study Version 0.33	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Immunodeficiency 21, MIM# 614172 Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Green GATA2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 21 MIM# 614172 Emberger syndrome MIM# 614038 Tags treatable haematological deafness