Hereditary ataxia
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
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Not sure this is an ataxia gene? May have previously been some confusion with ABCB7. Delete.Created: 24 Nov 2015, 4:56 p.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 Red
- Illumina TruGenome Clinical Sequencing Services
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Non-acute porphyrias
- Hereditary ataxia with onset in adulthood
- Cutaneous photosensitivity with a likely genetic cause
- Cytopenias and congenital anaemias
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- Erythropoietic protoporphyria, mild variant
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
History Filter Activity
10 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services