Non-Fanconi anaemia
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
3 reviews
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Green expert review, plus >3 unrelated cases of ALAS2 X-linked mutations causing sideroblastic anemia.Created: 4 May 2017, 8:32 a.m.
Comment on mode of inheritance: PMID:11110715 reports a female with sideroblastic anemia who is heterozygous for an ALAS2 mutation. Therefore recorded Mode of inheritance as XLD to support Expert reviews.Created: 4 May 2017, 8:30 a.m.
Details
- Mode of Inheritance
- 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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Anemia, sideroblastic, X-linked, 300751
- Sideroblastic Anemia and Ataxia
- Sideroblastic anaemia
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Mitochondrial disorders
- Non-acute porphyrias
- Rare anaemia
- Erythropoietic protoporphyria, mild variant
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Cutaneous photosensitivity with a likely genetic cause
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for ALAS2 were set to 10029606; 12531813; 7560104; 1570328; 11110715
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for ALAS2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Sideroblastic Anemia and Ataxia; Sideroblastic anaemia
Set publications
Rebecca Foulger (Genomics England curator)Publications for ALAS2 were set to 10029606; 12531813; 7560104; 1570328
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752; Sideroblastic Anemia and Ataxia; Sideroblastic anaemia
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
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
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
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
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
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
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
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services