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  3. ALAS2
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Metal Metabolism Disorders

Gene: ALAS2

Green List (high evidence)
ALAS2 (5'-aminolevulinate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 9 panels

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Details

Mode of Inheritance
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
OMIM
301300
Clinvar variants
Variants in ALAS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALAS2 was added gene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397 Phenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1