Cutaneous photosensitivity with a likely genetic cause
Gene: ALAS2
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
Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
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)
Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
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