Likely inborn error of metabolism - targeted testing not possible
Gene: ALAS2
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:02 p.m.
Panel Version: 1.255
Associated with phenotype in OMIM and not in Gen2Phen. At least 20 variants identified in both phenotypesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752
Publications
Phenotypes for gene: ALAS2 were changed from Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752
Gene: alas2 has been classified as Green List (High Evidence).
Source NHS GMS was added to ALAS2. Source London North GLH was added to ALAS2.
Sarah Leigh: Associated with relevant pheno
gene: ALAS2 was added gene: ALAS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber 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) Publications for gene: ALAS2 were set to 27604308 Phenotypes for gene: ALAS2 were set to Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)