Mitochondrial disorders
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and not in Gen2Phen. At least 20 variants identified in both phenotypesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752
Publications
Details
- Sources
-
- Expert list
- Phenotypes
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- Anemia, sideroblastic, 1, OMIM:300751
- Protoporphyria, erythropoietic, X-linked, OMIM:300752
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- None
- Publications
- Panels with this gene
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- 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; Protoporphyria, erythropoietic, X-linked 300752 to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ALAS2 were set to
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: ALAS2 was added gene: ALAS2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALAS2 was set to