Cytopenias and congenital anaemias
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
2 reviews
Helen Brittain (Genomics England Curator)
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
- PMID 10029606
Mode of pathogenicity
Other
BRIDGE consortium (NIHRBR-RD)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Anemia, sideroblastic, 1, OMIM:300751
- Tags
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Cutaneous photosensitivity with a likely genetic cause
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Erythropoietic protoporphyria, mild variant
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Non-acute porphyrias
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751 to Anemia, sideroblastic, 1, OMIM:300751
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for ALAS2 were set to Anemia, sideroblastic, 1 300751
Set publications
Helen Brittain (Genomics England Curator)Publications for ALAS2 were set to 10029606
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for ALAS2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)ALAS2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing
Created
Louise Daugherty (Genomics England Curator)ALAS2 was created by LouiseD