Vascular skin disorders
Gene: ALAS2Comment 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
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
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
Gene: alas2 has been classified as Green List (High Evidence).
Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Publications for gene: ALAS2 were set to
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)
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