ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ALAS2 in Erythropoietic protoporphyria, mild variant Level 3: Sun-exposure related conditions Level 2: Dermatological disorders Version 1.3	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 Radboud University Medical Center, Nijmegen Expert list Phenotypes Protoporphyria, erythropoietic, X-linked, OMIM:300752
Red ALAS2 in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	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 Red
Green ALAS2 in Non-acute porphyrias Version 1.24 Latest signed off version: v1.4 (15 Oct 2020)	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 Other NHS GMS Phenotypes Protoporphyria, erythropoietic, X-linked, OMIM:300752
Red ALAS2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	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 Red Illumina TruGenome Clinical Sequencing Services
Green ALAS2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Tags missense
Green ALAS2 in Cutaneous photosensitivity with a likely genetic cause Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	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 Review Phenotypes Protoporphyria, erythropoietic, X-linked, OMIM:300752
Green ALAS2 in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	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 Review Phenotypes Protoporphyria, erythropoietic, X-linked, OMIM:300752
Green ALAS2 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, 1, OMIM:300751
Green ALAS2 in Iron metabolism disorders - NOT common HFE mutations Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, 1, OMIM:300751
Red ALAS2 in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red
Green ALAS2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	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 Literature Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752
Green ALAS2 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 London North GLH NHS GMS Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752
Red ALAS2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Expert list Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752
Red ALAS2 in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 Red Hereditary ataxia v1.148
Red ALAS2 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green ALAS2 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Anemia, sideroblastic, 1, 300751 Protoporphyria, erythropoietic, X-linked, 300752