AK1

adenylate kinase 1
OMIM: 103000, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AK1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631
Red AK1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hemolytic anemia due to adenylate kinase deficiency
Green AK1 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631
Red AK1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to adenylate kinase deficiency
Green AK1 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 hemolytic anemia due to adenylate kinase deficiency MONDO:0012967 Disorders of purine metabolism