Cutaneous photosensitivity with a likely genetic cause
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
1 review
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.10
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.10
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 Green
- Expert Review
- Phenotypes
-
- Protoporphyria, erythropoietic, X-linked, OMIM:300752
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- None
- Panels with this gene
-
- Cutaneous photosensitivity with a likely genetic cause
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Non-acute porphyrias
- Rare anaemia
- Likely inborn error of metabolism
- Erythropoietic protoporphyria, mild variant
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Iron metabolism disorders - NOT common HFE mutations
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Set Phenotypes
Catherine Snow (Genomics England)Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Added New Source, Set Phenotypes, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to ALAS2. Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Catherine Snow (Genomics England)Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)gene: ALAS2 was added gene: ALAS2 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review 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) Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752