Non-Fanconi anaemia
Gene: ALAS2
Mode of inheritance
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
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.
This gene has been classified as Green List (High Evidence).
Publications for ALAS2 were set to 10029606; 12531813; 7560104; 1570328; 11110715
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)
Phenotypes for ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Sideroblastic Anemia and Ataxia; Sideroblastic anaemia
Publications for ALAS2 were set to 10029606; 12531813; 7560104; 1570328
Phenotypes for ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752; Sideroblastic Anemia and Ataxia; Sideroblastic anaemia
Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Source: Eligibility statement prior genetic testing
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)
ALAS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
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)
ALAS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
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)
ALAS2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ALAS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
ALAS2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services