ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ALAS2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 1, MIM# 300751
Green ALAS2 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, 1, MIM# 300751 Protoporphyria, erythropoietic, X-linked, MIM# 300752
Green ALAS2 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Protoporphyria, erythropoietic, X-linked 300752
Green ALAS2 in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.17 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Protoporphyria, erythropoietic, X-linked, 300752 Anemia, sideroblastic, X-linked, 300751
Green ALAS2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, sideroblastic, X-linked
Green ALAS2 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, 1, MIM# 300751
Green ALAS2 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 300752 Protoporphyria, erythropoietic, X-linked Sideroblastic anaemia - increased serum ferritin 300751 Anemia, sideroblastic, 1
Green ALAS2 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 1, MIM# 300751
Red ALAS2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Anaemia, sideroblastic, 1, MIM# 300751 Protoporphyria, erythropoietic, X-linked, MIM# 300752