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 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 0.328	1 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 1.2	2 reviews	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	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GATA2 in Mendeliome Version 1.3512	1 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 0.132	1 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 1.238	1 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 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	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 1.44 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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	0 reviews	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	2 reviews	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 1.465	1 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 0.38	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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