AK2

adenylate kinase 2
OMIM: 103020, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green AK2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	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 1.2302	1 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 1.210	1 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 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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	1 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis, 267500 (3)
Red AK2 in Fetal anomalies Version 1.313	1 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 0.33	1 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 1.1566	1 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	1 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	0 reviews	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	1 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