Vascular skin disordersGene: ALAS2
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 panel
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.20
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