Cytopenias and congenital anaemias
Gene: ALAS2
Comment when marking as ready: Sufficient evidence of causation and appropriate phenotypeCreated: 28 Feb 2017, 1:11 p.m.
Missense mutations reported. Although some of the early families reported with the phenotype suggested that females may manifest anaemia, there is no supportive evidence of this in the reported cases with mutations. Therefore considered X-linked recessive inheritance.Created: 20 Feb 2017, 9:40 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, 1 300751
Publications
Mode of pathogenicity
Other
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Microcytic anemia; Enzyme Disorder; Sideroblastic anemia
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751 to Anemia, sideroblastic, 1, OMIM:300751
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for ALAS2 were set to Anemia, sideroblastic, 1 300751
Publications for ALAS2 were set to 10029606
Mode of inheritance for ALAS2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
ALAS2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing
ALAS2 was created by LouiseD