Hereditary ataxia with onset in adulthood
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
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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
- Hereditary ataxia v1.148
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- None
- 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
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
15 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ALAS2 was added gene: ALAS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode 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)