This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: ALAS2
ALAS2 (5'-aminolevulinate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
- Sources
-
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Sideroblastic anaemia
- ANEMIA, HEREDITARYSIDEROBLASTIC X-linked
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Erythropoietic protoporphyria, mild variant
- Ataxia and cerebellar anomalies - childhood onset
- Non-acute porphyrias
- Likely inborn error of metabolism
- Iron metabolism disorders - NOT common HFE mutations
- Rare anaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Vascular skin disorders
- Mitochondrial disorders
- Cutaneous photosensitivity with a likely genetic cause
History Filter Activity
30 Sep 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
12 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Eligibility statement prior genetic testing