Ataxia and cerebellar anomalies - narrow panel
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
0 reviews
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
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Mitochondrial disorders
- Non-acute porphyrias
- Rare anaemia
- Erythropoietic protoporphyria, mild variant
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Cutaneous photosensitivity with a likely genetic cause
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: ALAS2 was added gene: ALAS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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)