Congenital anaemias
Gene: ALAS2EnsemblGeneIds (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, may be caused by monoallelic mutations in females
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752
- Sideroblastic Anemia and Ataxia
- Sideroblastic anaemia
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- Complete
- 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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ALAS2 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Congenital anaemiaspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ALAS2 was added to Congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()ALAS2 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()ALAS2 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()ALAS2 was added to Congenital anaemiaspanel. Sources: UKGTN