Vascular skin disorders
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Inclusion of ALAS2 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics).
Gain-of-function variants in the ALAS2 gene cause erythropoietic protoporphyria which is associated with acute phototoxic skin reactions following sunlight exposure. Although the origin of cutaneous manifestations is not directly vascular, this panel may provide a differential diagnosis. The FECH gene which also causes erythropoietic protoporphyria is also included on the panel.
Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.Created: 11 Mar 2024, 4:20 p.m. | Last Modified: 11 Mar 2024, 4:20 p.m.
Panel Version: 1.56
Zornitza Stark (Australian Genomics)
Skin photosensitivity rather than vascular malformations.Created: 2 Jul 2020, 12:30 a.m. | Last Modified: 2 Jul 2020, 12:30 a.m.
Panel Version: 1.3
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that ALAS2 should be added to this panelCreated: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.20
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
- Publications
- 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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: alas2 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ALAS2 were set to
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 for gene: ALAS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)gene: ALAS2 was added gene: ALAS2 was added to Vascular skin disorders. 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 Protoporphyria, erythropoietic, X-linked, 300752