AK2

adenylate kinase 2
OMIM: 103020, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green AK2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable
Green AK2 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable
Green AK2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.213	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973
Green AK2 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973 Tags treatable
Green AK2 in Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.8 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis MIM# 267500 MONDO:0009973 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness Tags treatable
Green AK2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis, 267500 (3)
Red AK2 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973
Green AK2 in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0009973 Reticular dysgenesis, MIM# 267500
Green AK2 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis MIM# 267500
Green AK2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable haematological
Green AK2 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis, 267500 (3)
Green AK2 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.5 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes reticular dysgenesis MONDO:0009973 Disorders of purine metabolism